Canonical Allele Identifier: PA2827119703
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 480330
ClinVar RCV Id: RCV000561492 RCV000706959 RCV001584373 RCV001284326
ClinVar Variation Id: 1790236
ClinVar RCV Id: RCV002457741 RCV003098826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Met683Ile
CA047893
NM_001322007.2:c.2049G>A
CA366735808
NM_001322007.2:c.2049G>T
CA366735811
NM_001322007.2:c.2049G>C