Canonical Allele Identifier: PA2827310935
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 445724
ClinVar RCV Id: RCV000514949 RCV000690393 RCV000664898 RCV001126360 RCV002271519 RCV000989953 RCV004527618
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Asp286Gly
CA8669389
NM_001330397.2:c.857A>G