ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573185310
Gene: C2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171534.1:p.Val50Ile
CA363495921
NM_001178063.3:c.148G>A