ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825748444
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471311
ClinVar RCV Id:
RCV000558437
RCV000592365
RCV001271549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124448.1:p.Ile1593Val
CA1707194
NM_001130976.2:c.4777A>G