ClinGen Allele Registry
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Canonical Allele Identifier:
PA343122
Gene: PCCA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000273.2:p.Ser562Ter
NM_000282.4:c.1685C>A
NM_000282.4:c.1685C>G