Canonical Allele Identifier: PA161499
Gene: PMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135041
ClinVar RCV Id: RCV000121814
ClinVar Variation Id: 708165
ClinVar RCV Id: RCV000879375 RCV003955790
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000525.1:p.Glu59Lys
CA161497
NM_000534.5:c.174_175delinsTA
CA2026317
NM_000534.5:c.175G>A