Canonical Allele Identifier: PA2827121232
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230280
ClinVar RCV Id: RCV000213581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Phe682Leu
CA10578646
NM_001322008.2:c.2044T>C
CA366735824
NM_001322008.2:c.2046C>G
CA366735825
NM_001322008.2:c.2046C>A