ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829502540
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1379207
ClinVar RCV Id:
RCV001883652
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004003.2:p.Ser1113Phe
CA10378283
NM_004012.4:c.3338C>T