ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499233715
Gene: C7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001520302
RCV001529192
ClinVar Variation:
1169275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000578.2:p.Ser389Thr
CA3249880
NM_000587.4:c.1166G>C