ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825693008
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
259085
ClinVar RCV Id:
RCV000249294
RCV000532146
RCV000733997
RCV001833275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Val227Met
CA1705456
NM_001130455.2:c.679G>A