ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825695218
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288577
ClinVar RCV Id:
RCV000647992
RCV000726189
RCV001271547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Asn1597Ser
CA1707164
NM_001130455.2:c.4790A>G