Canonical Allele Identifier: PA2827310795
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 241188
ClinVar RCV Id: RCV000226628 RCV000728102 RCV000765372 RCV001122692 RCV001122693 RCV001820754 RCV002518354 RCV004532953
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Val182Ile
CA8669471
NM_001330397.2:c.544G>A