Canonical Allele Identifier: PA2827091052
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235814
ClinVar RCV Id: RCV000224664 RCV000318559 RCV000695608 RCV000765373 RCV001126448 RCV001126449 RCV004541364
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308198.1:p.Arg123Gln
CA8669556
NM_001321269.1:c.368G>A