Canonical Allele Identifier: PA2829489041
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 498588
ClinVar RCV Id: RCV000596128 RCV001242280
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004000.1:p.Ser349Leu
CA10379980
NM_004009.3:c.1046C>T