ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825694881
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501040
ClinVar RCV Id:
RCV000658870
RCV001196059
RCV001140901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Val1404Ile
CA1706946
NM_001130455.2:c.4210G>A