ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827996620
Gene: APC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000217420
RCV000237081
RCV002494584
RCV003743647
RCV003997790
ClinVar Variation:
229993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341830.1:p.Arg1817Met
CA042448
NM_001354901.2:c.5450G>T