Canonical Allele Identifier: PA2827090417
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499986
ClinVar RCV Id: RCV000598192 RCV001087688 RCV001823737 RCV001829657
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Asp202Asn
CA8669230
NM_001321268.1:c.604G>A