ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674762
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471318
ClinVar RCV Id:
RCV000534201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Asp1894Val
CA347223572
NM_001130987.2:c.5681A>T