Canonical Allele Identifier: PA2827090250
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56627
ClinVar RCV Id: RCV000050040 RCV000735097 RCV000735871 RCV001853066 RCV003474638
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Val117Ile
CA344764
NM_001321268.1:c.349G>A