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: PA2825073023

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 368244

ClinVar RCV Id: RCV000273131 RCV000534069 RCV001273868 RCV003298417

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000100.3:p.Thr1675Pro	CA10646120 NM_000109.4:c.5023A>C