ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827666170
Gene: PCCA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339539.1:p.Arg348His
CA7033862
NM_001352610.2:c.1043G>A