Canonical Allele Identifier: PA2827090700
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 890609
ClinVar RCV Id: RCV001125297 RCV001126262 RCV001882412 RCV004032261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Arg330His
CA8669065
NM_001321268.1:c.989G>A