Canonical Allele Identifier: PA2827138593
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486053
ClinVar RCV Id: RCV000575750
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Lys510Asn
CA366739641
NM_001322015.1:c.1530G>T
CA366739643
NM_001322015.1:c.1530G>C