Allele Registry

Canonical Allele Identifier: PA2826131543

Gene: PCCA HGNC NCBI

ClinVar Allele:

408778

ClinVar RCV:

RCV000480056

RCV002525770

ClinVar Variation:

418400

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171475.1:p.Glu248Lys	CA16619606 NM_001178004.2:c.742G>A