ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095128
Gene: C2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000054.2:p.Ser209Phe
NM_000063.6:c.626C>T