ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573170927
Gene: C8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1362266
ClinVar RCV Id:
RCV001932200
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000553.1:p.Asn116Ser
CA340513178
NM_000562.3:c.347A>G