Canonical Allele Identifier: PA2827310689
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 530895
ClinVar RCV Id: RCV000636950 RCV001835021 RCV003222071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Arg124Gln
CA8669554
NM_001330397.2:c.371G>A