ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825749684
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471284
ClinVar RCV Id:
RCV000547561
RCV000734858
RCV001834789
RCV002506358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Val691Met
CA1706074
NM_001130977.2:c.2071G>A