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: PA2829492796

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 2167242

ClinVar RCV Id: RCV003086344 RCV003161809

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004000.1:p.Lys2324Glu	CA10378362 NM_004009.3:c.6970A>G