ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825693266
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538630
ClinVar RCV Id:
RCV000647995
RCV001835045
RCV003162956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Arg388Gln
CA1705662
NM_001130455.2:c.1163G>A