ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915994253
Gene: PCCB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198428
ClinVar RCV Id:
RCV000179767
RCV000507200
RCV000413250
RCV003372636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171485.1:p.Pro248Leu
CA278515
NM_001178014.2:c.743C>T