Canonical Allele Identifier: PA2573316049
Gene: C1S HGNC NCBI
ClinVar RCV:
RCV001899734
ClinVar Variation:
1361566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_958850.1:p.His92Tyr
CA383689113
NM_201442.4:c.274C>T