Canonical Allele Identifier: PA2827119030
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231987
ClinVar RCV Id: RCV004518702
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Lys504Asn
CA366739689
NM_001322007.2:c.1512A>T
CA366739692
NM_001322007.2:c.1512A>C