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: PA2829497323

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 423086

ClinVar RCV Id: RCV000485408 RCV003512049

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004001.1:p.Leu1594Phe	CA10378765 NM_004010.3:c.4780C>T