Canonical Allele Identifier: PA2827131801
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 192223
ClinVar RCV Id: RCV000172820 RCV000239355 RCV000555261 RCV000567860 RCV000758628 RCV001357402 RCV001798624
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Thr417Ala
CA011001
NM_001322012.1:c.1249A>G