ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827940227
Gene: APC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000570604
RCV001174654
RCV002230492
RCV004001935
ClinVar Variation:
411395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341824.1:p.His250Arg
CA16022971
NM_001354895.2:c.749A>G