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: PA2829491745

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 264223

ClinVar RCV Id: RCV000245613 RCV000865621 RCV001835747 RCV002500953

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004000.1:p.Thr1679Ser	CA10378782 NM_004009.3:c.5036C>G CA412671651 NM_004009.3:c.5035A>T