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: PA2499265487

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 1168925

ClinVar RCV Id: RCV001519575 RCV001836437

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004001.1:p.Lys938Arg	CA10379331 NM_004010.3:c.2813A>G