ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827947506
Gene: APC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000214237
RCV000481205
RCV000780839
RCV002519728
RCV003650503
ClinVar Variation:
233218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341824.1:p.Leu2493Pro
CA048192
NM_001354895.2:c.7478T>C