Canonical Allele Identifier: PA2825663080
Gene: PMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135052
ClinVar RCV Id: RCV000121825
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121616.1:p.Thr334Met
CA161528
NM_001128144.2:c.1001C>T