ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825694725
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6667
ClinVar RCV Id:
RCV000007049
RCV000153183
RCV000509353
RCV000658868
RCV000681611
RCV001563901
RCV004547461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Ile1299Val
CA179991
NM_001130455.2:c.3895A>G