ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110837
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000591033
RCV002491213
RCV003574784
ClinVar Variation:
500922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Cys1361Arg
CA1706900
NM_003494.4:c.4081T>C