Canonical Allele Identifier: PA2827122948
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142447
ClinVar RCV Id: RCV000131574 RCV000457616 RCV000656947 RCV001249988 RCV003149908 RCV003998108 RCV003894996
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Val361Ile
CA009624
NM_001322008.2:c.1081G>A