ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573193507
Gene: C2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269387.1:p.Arg95Trp
CA3727354
NM_001282458.2:c.283C>T