ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828047851
Gene: APC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000120032
RCV000131590
RCV000587624
RCV001153055
RCV003323291
ClinVar Variation:
133522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341833.1:p.Ser2371Leu
CA013717
NM_001354904.2:c.7112C>T