ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825762168
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000249294
RCV000532146
RCV000733997
RCV001833275
ClinVar Variation:
259085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Val227Met
CA1705456
NM_001130983.2:c.679G>A