ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825766015
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000595675
RCV001243854
RCV001829645
ClinVar Variation:
498372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Gln1708Leu
CA1707293
NM_001130984.2:c.5123A>T