ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477676
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290506
ClinVar RCV Id:
RCV000398537
RCV002518140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Thr1159Met
CA1706576
NM_001130987.2:c.3476C>T