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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:
CA2610889910
Gene: RBM20
HGNC
NCBI
Linked Data
gnomAD v4:
10-110644364-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.110644365del , CM000672.2:g.110644365del
GRCh38
NC_000010.10:g.112404123del , CM000672.1:g.112404123del
GRCh37
NC_000010.9:g.112394113del
NCBI36
NG_021177.1:g.4969del , LRG_382:g.4969del
Transcript Alleles
HGVS
Amino-acid change
ENST00000369519.4:c.-90del
MANE Select
ENSP00000358532.3:n.-90del
XM_017016103.2:c.26+925del
XP_016871592.1:n.26+925del
NM_001134363.3:c.-90del
MANE Select
NP_001127835.2:n.-90del
Search 100 bp 5'
Search 100 bp 3'