Canonical Allele Identifier: PA2827120295
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127754
ClinVar RCV Id: RCV000115651 RCV000229947 RCV000212859 RCV001030722 RCV001199850 RCV003467050 RCV003997284 RCV003421993
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Ala284Val
CA009271
NM_001322008.2:c.851C>T