ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825757510
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471311
ClinVar RCV Id:
RCV000558437
RCV000592365
RCV001271549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Ile1624Val
CA1707194
NM_001130980.2:c.4870A>G