Canonical Allele Identifier: PA2827311108
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499986
ClinVar RCV Id: RCV000598192 RCV001087688 RCV001823737 RCV001829657
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Asp405Asn
CA8669230
NM_001330397.2:c.1213G>A