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Canonical Allele Identifier: Get Identifier
Gene: PMS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514563.1:p.[His786_Asn789delinsProSerProThrTrpValSerPhe;Gly791_Ile793delinsArgThrAspArg;Gln795_Asn796delinsHisCysMetGlu]
CA2580076749
ENST00000699754.1:c.2357del