ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825764244
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284573
ClinVar RCV Id:
RCV000293243
RCV002519155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Ala85Val
CA1705297
NM_001130984.2:c.254C>T