ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829340264
Gene: C1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1362324
ClinVar RCV Id:
RCV001900120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001725.1:p.Pro142Thr
CA6423455
NM_001734.5:c.424C>A