Canonical Allele Identifier: PA2827130384
Gene: PMS2 HGNC NCBI
ClinVar RCV:
RCV002425987
ClinVar Variation:
1793202
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Gly546Cys
CA366734747
NM_001322011.2:c.1636G>T