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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA378527225
Gene: RBM20
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.112404215G>C (hg19)
chr10:g.110644457G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.110644457G>C , CM000672.2:g.110644457G>C
GRCh38
NC_000010.10:g.112404215G>C , CM000672.1:g.112404215G>C
GRCh37
NC_000010.9:g.112394205G>C
NCBI36
NG_021177.1:g.5061G>C , LRG_382:g.5061G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000369519.4:c.3G>C
MANE Select
ENSP00000358532.3:p.Met1Ile
ENST00000369519.3:c.3G>C
ENSP00000358532.3:p.Met1Ile
NM_001134363.2:c.3G>C
NP_001127835.2:p.Met1Ile
XM_017016103.2:c.26+1017G>C
XP_016871592.1:n.26+1017G>C
NM_001134363.3:c.3G>C
MANE Select
NP_001127835.2:p.Met1Ile
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Search 100 bp 3'