Canonical Allele Identifier: PA2827132133
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91343
ClinVar RCV Id: RCV000076859 RCV000130249 RCV000485694 RCV000525929 RCV000764719 RCV001193971 RCV003452993
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Ser504Leu
CA011500
NM_001322012.1:c.1511C>T