ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658806995
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500090
ClinVar RCV Id:
RCV000665182
RCV000711567
RCV002531059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Arg1788Cys
CA1707345
NM_001130987.2:c.5362C>T