Canonical Allele Identifier: PA2827090612
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1393
ClinVar RCV Id: RCV000001458 RCV000626942 RCV000665962 RCV001239533 RCV001578018 RCV001729331 RCV004532272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Cys289Trp
CA251777
NM_001321268.1:c.867T>G
CA2580573370
NM_001321268.1:c.[867T>G;506_508del]