Canonical Allele Identifier: PA2827134029
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 946342
ClinVar RCV Id: RCV001217188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Glu486Asp
CA366738142
NM_001322013.1:c.1458A>T
CA366738143
NM_001322013.1:c.1458A>C