Canonical Allele Identifier: PA2827111756
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127801
ClinVar RCV Id: RCV000115710 RCV000656943 RCV000469956 RCV001093686 RCV003460827 RCV003997295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.Val171Met
CA013247
NM_001322005.2:c.511G>A