ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477708
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286443
ClinVar RCV Id:
RCV000331066
RCV000820404
RCV001828229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Thr1383Met
CA1706904
NM_001130987.2:c.4148C>T