ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825766580
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94334
ClinVar RCV Id:
RCV000080300
RCV000531528
RCV001273964
RCV001699034
RCV001449921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Ala202Glu
CA147766
NM_001130985.2:c.605C>A