ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829488948
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000602771
RCV001168122
RCV001829718
RCV002529409
ClinVar Variation:
507110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004000.1:p.Ser315Leu
CA10380021
NM_004009.3:c.944C>T