ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915994331
Gene: PCCB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12011
ClinVar RCV Id:
RCV000012791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171485.1:p.Arg430Trp
CA343136
NM_001178014.2:c.1288C>T