ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828027641
Gene: APC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000074243
RCV003650365
ClinVar Variation:
83247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341832.1:p.Ser2249Phe
CA012787
NM_001354903.2:c.6746C>T