ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826647674
Gene: C2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269388.1:p.Val173Ile
CA363495921
NM_001282459.2:c.517G>A