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: PA2829488932

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 1500307

ClinVar RCV Id: RCV002015544

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004000.1:p.Ser306Tyr	CA412668452 NM_004009.3:c.917C>A