Allele Registry

Canonical Allele Identifier: PA916001552

Gene: DMD HGNC NCBI

ClinVar RCV:

RCV000630512

RCV001829752

RCV002334055

ClinVar Variation:

526058

HGVS (amino-acid)	Matching Registered Transcripts
NP_004002.3:p.Ala247Ser	CA10378868 NM_004011.4:c.739G>T