ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827665143
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289402
ClinVar RCV Id:
RCV000343943
RCV000726318
RCV003479094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339537.1:p.Arg242Cys
CA7033380
NM_001352608.2:c.724C>T