ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477577
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282209
ClinVar RCV Id:
RCV000300999
RCV000358093
RCV000711546
RCV001084088
RCV001449924
RCV001276725
RCV001820812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Met483Val
CA1705737
NM_001130987.2:c.1447A>G