ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103408
Gene: PCCB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000523.2:p.Arg512Cys
CA343140
NM_000532.5:c.1534C>T