ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825766176
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284471
ClinVar RCV Id:
RCV000265900
RCV001859602
RCV003401247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Val1848Met
CA10604806
NM_001130984.2:c.5542G>A