ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827664717
Gene: PCCA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339536.1:p.Pro397Leu
CA388695538
NM_001352607.2:c.1190C>T