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: PA916001612

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 264223

ClinVar RCV Id: RCV000245613 RCV000865621 RCV001835747 RCV002500953

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004002.3:p.Thr342Ser	CA10378782 NM_004011.4:c.1025C>G CA412671651 NM_004011.4:c.1024A>T