ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138493
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000480711
RCV000584439
RCV000780618
RCV001301313
RCV004003361
ClinVar Variation:
421757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Ser484Ile
CA16618499
NM_001322015.1:c.1451G>T