Canonical Allele Identifier: PA2827120270
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127753
ClinVar RCV Id: RCV000115649 RCV000220170 RCV000590932 RCV000586764 RCV001085405 RCV003315638
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Asp260His
CA009190
NM_001322008.2:c.778G>C