Canonical Allele Identifier: PA2827090481
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324159
ClinVar RCV Id: RCV000291999 RCV000346858 RCV000592032 RCV001850733 RCV002524429 RCV004529556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Thr238Met
CA8669167
NM_001321268.1:c.713C>T