Canonical Allele Identifier: PA2827114569
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484311
ClinVar RCV Id: RCV000574372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Gln174His
CA366744181
NM_001322006.2:c.522A>T
CA366744182
NM_001322006.2:c.522A>C