ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658655086
Gene: C8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444168
ClinVar RCV Id:
RCV000512898
RCV003925513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000553.1:p.Asp129Asn
CA875021
NM_000562.3:c.385G>A