ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826131543
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418400
ClinVar RCV Id:
RCV000480056
RCV002525770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171475.1:p.Glu248Lys
CA16619606
NM_001178004.2:c.742G>A