ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825748701
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_001124448.1:p.Met1821Val
CA347223040
NM_001130976.2:c.5461A>G