Canonical Allele Identifier: PA2827091810
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 241187
ClinVar RCV Id: RCV000316438 RCV000380158 RCV000513283 RCV001084685 RCV002519801 RCV004529411
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308198.1:p.His472Arg
CA8669097
NM_001321269.1:c.1415A>G