Canonical Allele Identifier: PA2827130400
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2158374
ClinVar RCV Id: RCV003093521
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Gln550Arg
CA366734705
NM_001322011.2:c.1649A>G