Canonical Allele Identifier: PA2827091799
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286884
ClinVar RCV Id: RCV000285730 RCV000335464 RCV000400230 RCV000514906 RCV001083793 RCV001094550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308198.1:p.Arg463Gln
CA8669152
NM_001321269.1:c.1388G>A