Canonical Allele Identifier: PA2827130374
Gene: PMS2 HGNC NCBI
ClinVar RCV:
RCV000689152
ClinVar Variation:
568710
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Ala543Ser
CA366734780
NM_001322011.2:c.1627G>T