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Canonical Allele Identifier: Get Identifier
Gene: PMS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000514622.1:p.Lys44del
ENST00000699821.1:c.130_132del

ENST00000699821.1:c.[130_132del;134A=]

ENST00000699821.1:c.[130_132del;135G>A]

ENST00000699821.1:c.[130_132del;135G=]