ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825758828
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288008
ClinVar RCV Id:
RCV000385438
RCV000525552
RCV001535516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Ala800Val
CA1706139
NM_001130981.2:c.2399C>T