Canonical Allele Identifier: PA2827134009
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127770
ClinVar RCV Id: RCV000115670 RCV000144642 RCV000200451 RCV000212865 RCV000488189 RCV000515168 RCV000987820 RCV003483476 RCV003149799
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Thr480Met
CA010720
NM_001322013.1:c.1439C>T