ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645398917
Gene: APC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001120982.1:p.Leu548Val
NM_001127510.3:c.1642T>G