ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825756563
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000385438
RCV000525552
RCV001535516
ClinVar Variation:
288008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Ala800Val
CA1706139
NM_001130980.2:c.2399C>T