ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103368
Gene: PCCB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
551146
ClinVar RCV Id:
RCV000666130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000523.2:p.Arg165Gln
CA354739684
NM_000532.5:c.494G>A