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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:
CA2610889888
Gene: RBM20
HGNC
NCBI
Linked Data
gnomAD v4:
10-110644359-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.110644360del , CM000672.2:g.110644360del
GRCh38
NC_000010.10:g.112404118del , CM000672.1:g.112404118del
GRCh37
NC_000010.9:g.112394108del
NCBI36
NG_021177.1:g.4964del , LRG_382:g.4964del
Transcript Alleles
HGVS
Amino-acid change
ENST00000369519.4:c.-95del
MANE Select
ENSP00000358532.3:n.-95del
XM_017016103.2:c.26+920del
XP_016871592.1:n.26+920del
NM_001134363.3:c.-95del
MANE Select
NP_001127835.2:n.-95del
Search 100 bp 5'
Search 100 bp 3'