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: PA2829497268

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 1387525

ClinVar RCV Id: RCV001884099 RCV002334810

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004001.1:p.Met1558Ile	CA327995299 NM_004010.3:c.4674G>A CA412671661 NM_004010.3:c.4674G>T CA412671662 NM_004010.3:c.4674G>C