ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580209290
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2017732
ClinVar RCV Id:
RCV002835302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339538.1:p.Pro166Leu
CA388693312
NM_001352609.2:c.497C>T