Allele Registry

Canonical Allele Identifier: PA2827069192

Gene: PMS1 HGNC NCBI

ClinVar RCV:

RCV000121814

RCV000879375

RCV003955790

ClinVar Variation:

135041

708165

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307978.1:p.Glu59Lys	CA161497 NM_001321049.2:c.174_175delinsTA CA2026317 NM_001321049.2:c.175G>A