ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827665367
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38865
ClinVar RCV Id:
RCV000032108
RCV000127322
RCV002262596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339537.1:p.Val477Phe
CA292687
NM_001352608.2:c.1429G>T