ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825757768
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500678
ClinVar RCV Id:
RCV000593308
RCV003231652
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Met1852Val
CA347223040
NM_001130980.2:c.5554A>G