Canonical Allele Identifier: PA2827091824
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 194770
ClinVar RCV Id: RCV000175214 RCV000280084 RCV000374576 RCV001087215
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308198.1:p.Glu475Lys
CA240920
NM_001321269.1:c.1423G>A