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: PA1139717531

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 937961

ClinVar RCV Id: RCV001207096 RCV001828659

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003997.2:p.Thr309Ser	CA412668467 NM_004006.3:c.926C>G CA412668470 NM_004006.3:c.925A>T