Allele Registry

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.

Canonical Allele Identifier: PA2829501655

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 1487806

ClinVar RCV Id: RCV002008850 RCV002479680

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004003.2:p.Val372Met	CA10378767 NM_004012.4:c.1114G>A