Canonical Allele Identifier: PA1139697458
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 940351
ClinVar RCV Id: RCV001209924 RCV001833845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Arg76Gln
CA8669395
NM_001321268.1:c.227G>A