ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477685
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196895
ClinVar RCV Id:
RCV000177777
RCV000656846
RCV001084687
RCV001336578
RCV002516753
RCV003937609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Arg1272Trp
CA244680
NM_001130987.2:c.3814C>T