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: PA2829490879

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 650474

ClinVar RCV Id: RCV000805634 RCV001830749

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004000.1:p.Ser1157Asn	CA10379257 NM_004009.3:c.3470G>A