ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825753734
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_001124451.1:p.Val257Met
CA1705456
NM_001130979.2:c.769G>A