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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
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Canonical Allele Identifier:
CA2516895679
Gene: RBMY1J
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.22325619_22325620insGCCAGCG , CM000686.2:g.22325619_22325620insGCCAGCG
GRCh38
NC_000024.9:g.24471766_24471767insGCCAGCG , CM000686.1:g.24471766_24471767insGCCAGCG
GRCh37
NC_000024.8:g.22881154_22881155insGCCAGCG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000414629.6:c.-5+16649_-5+16650insGCCAGCG
ENSP00000405745.2:n.-5+16649_-5+16650insGCCAGCG
ENST00000445779.6:c.-5+16649_-5+16650insGCCAGCG
ENSP00000389621.2:n.-5+16649_-5+16650insGCCAGCG
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