ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825765083
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195961
ClinVar RCV Id:
RCV000176653
RCV000553449
RCV001267331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Val878Ile
CA242686
NM_001130984.2:c.2632G>A