ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825749518
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1409880
ClinVar RCV Id:
RCV001939946
RCV003146344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Glu517Gly
CA49792919
NM_001130977.2:c.1550A>G