Canonical Allele Identifier: PA2827134046
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411023
ClinVar RCV Id: RCV000708731 RCV002230129
ClinVar Variation Id: 2624749
ClinVar RCV Id: RCV003386981 RCV003459852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Gln490His
CA16612213
NM_001322013.1:c.1470G>T
CA366738120
NM_001322013.1:c.1470G>C