ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477825
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282408
ClinVar RCV Id:
RCV000317613
RCV000754725
RCV002521880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Tyr1916His
CA1707485
NM_001130987.2:c.5746T>C