ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645377734
Gene: C8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424158
ClinVar RCV Id:
RCV000483215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000553.1:p.Ser149Pro
CA875030
NM_000562.3:c.445T>C