ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111797
Gene: PC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000911.2:p.Arg631Gln
NM_000920.4:c.1892G>A