Canonical Allele Identifier: PA2827130170
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41712
ClinVar RCV Id: RCV000034627 RCV000688719 RCV003298041
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Pro489Leu
CA011432
NM_001322011.2:c.1466C>T