ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915974129
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289963
ClinVar RCV Id:
RCV001086957
RCV000726406
RCV001271534
RCV003910035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Asn1383Ser
CA1706892
NM_001130982.2:c.4148A>G