Canonical Allele Identifier: PA2827110460
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142688
ClinVar RCV Id: RCV000132047 RCV000199501 RCV000479601 RCV000656953 RCV003483508 RCV003149910
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308933.1:p.Ile718Met
CA011680
NM_001322004.2:c.2154C>G