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: PA2829491807

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 655939

ClinVar RCV Id: RCV000812223 RCV001273867 RCV002336672

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004000.1:p.Leu1713Ile	CA412671421 NM_004009.3:c.5137C>A