Canonical Allele Identifier: PA2827124223
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 946342
ClinVar RCV Id: RCV001217188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Glu571Asp
CA366738142
NM_001322008.2:c.1713A>T
CA366738143
NM_001322008.2:c.1713A>C