Canonical Allele Identifier: PA2827091161
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324166
ClinVar RCV Id: RCV000321171 RCV000384944 RCV000730592 RCV001086823 RCV004537814
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308198.1:p.Arg164His
CA8669506
NM_001321269.1:c.491G>A