Canonical Allele Identifier: PA2827117737
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484262
ClinVar RCV Id: RCV000573847 RCV000587439 RCV001553488 RCV001049150 RCV004001071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Thr171Met
CA051942
NM_001322007.2:c.512C>T