Canonical Allele Identifier: PA2827120548
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2451605
ClinVar RCV Id: RCV003187301
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Asn577His
CA366738111
NM_001322008.2:c.1729A>C