ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341176
Gene: PCCB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000523.2:p.Ala513_Arg514insPro
NM_000532.5:c.1538_1540dup