ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573221030
Gene: C9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1493405
ClinVar RCV Id:
RCV001984347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001728.1:p.Ala365Val
CA3246808
NM_001737.5:c.1094C>T