ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827665897
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2039433
ClinVar RCV Id:
RCV002899889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339539.1:p.Leu54Val
CA7033510
NM_001352610.2:c.160C>G