Canonical Allele Identifier: PA2827121606
Gene: PMS2 HGNC NCBI
ClinVar RCV:
RCV003093521
ClinVar Variation:
2158374
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Gln755Arg
CA366734705
NM_001322008.2:c.2264A>G