ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477004
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284579
ClinVar RCV Id:
RCV000415918
RCV000675087
RCV001844111
RCV002521923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Pro135Leu
CA1705344
NM_001130987.2:c.404C>T