ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827129363
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_001308940.1:p.Ser276Ile
CA16618499
NM_001322011.2:c.827G>T