Canonical Allele Identifier: PA2827118294
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 184994
ClinVar RCV Id: RCV000164345 RCV000234512 RCV000486789 RCV000524430 RCV000657013
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Ala317Gly
CA009455
NM_001322007.2:c.950C>G