ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916035512
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203879
ClinVar RCV Id:
RCV000186084
RCV000380145
RCV002513960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339537.1:p.Val84Leu
CA312817
NM_001352608.2:c.250G>C