ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825768782
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94322
ClinVar RCV Id:
RCV000080288
RCV000274365
RCV000331836
RCV000647983
RCV001276718
RCV004019553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Pro144Gln
CA222166
NM_001130986.2:c.431C>A