ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139682994
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
955036
ClinVar RCV Id:
RCV001227601
RCV001833966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.His1058Pro
CA347216979
NM_001130982.2:c.3173A>C