ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434569
Gene: PCCB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000523.2:p.Lys474Arg
NM_000532.5:c.1421A>G