Canonical Allele Identifier: PA2827130185
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142572
ClinVar RCV Id: RCV000131772 RCV000222535 RCV000689497 RCV001193254 RCV003467186
ClinVar Variation Id: 1790905
ClinVar RCV Id: RCV002450347
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Lys493Asn
CA011460
NM_001322011.2:c.1479G>C
CA366735645
NM_001322011.2:c.1479G>T