ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110779
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6668
ClinVar RCV Id:
RCV000007052
RCV000007051
RCV000080320
RCV000815134
RCV001813961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg2042Cys
CA222203
NM_003494.4:c.6124C>T