ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916021957
Gene: C5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304092.1:p.Val808Ile
CA5217784
NM_001317163.2:c.2422G>A