ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825764868
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000251223
RCV000513999
RCV001081560
RCV001828138
RCV002519917
ClinVar Variation:
259069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Leu672Val
CA1706042
NM_001130984.2:c.2014C>G