ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825753966
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
336950
ClinVar RCV Id:
RCV000297254
RCV000392981
RCV000705827
RCV001828331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Ala456Val
CA1705708
NM_001130979.2:c.1367C>T