ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825139163
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2188121
ClinVar RCV Id:
RCV002616289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000273.2:p.Arg390Cys
CA7033520
NM_000282.4:c.1168C>T