ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827666071
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218258
ClinVar RCV Id:
RCV000236220
RCV000611609
RCV003401094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339539.1:p.Trp244Leu
CA7033745
NM_001352610.2:c.731G>T