Allele Registry

Canonical Allele Identifier: PA2573084012

Gene: DMD HGNC NCBI

ClinVar Allele:

195140

ClinVar RCV:

RCV000179162

RCV000723963

RCV001079559

RCV001833087

ClinVar Variation:

197979

HGVS (amino-acid)	Matching Registered Transcripts
NP_003997.2:p.Gln2716Arg	CA246410 NM_004006.3:c.8147A>G