ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3069810868
Gene: PCCB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000523.2:p.Gln528del
CA2604694182
NM_000532.5:c.1583_1585del