ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829495496
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000080474
RCV000250691
RCV000711450
RCV000853044
RCV001084848
RCV001165928
RCV001826731
ClinVar Variation:
94487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Ser543Leu
CA285538
NM_004010.3:c.1628C>T