ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825762443
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285813
ClinVar RCV Id:
RCV000335981
RCV000535143
RCV001274443
RCV002480026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Arg469Cys
CA1705795
NM_001130983.2:c.1405C>T