ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825749477
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000335981
RCV000535143
RCV001274443
RCV002480026
ClinVar Variation:
285813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Arg468Cys
CA1705795
NM_001130977.2:c.1402C>T