ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127039
Gene: C8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018567
RCV000455609
RCV001520828
RCV003343602
ClinVar Variation:
17039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000553.1:p.Gln93Lys
CA127037
NM_000562.3:c.277C>A