ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434919
Gene: PCCA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000273.2:p.Ile260Leu
NM_000282.4:c.778A>C
NM_000282.4:c.778A>T