Canonical Allele Identifier: PA2827310619
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196477
ClinVar RCV Id: RCV000177294 RCV000514445 RCV000351197 RCV000399365 RCV001079449 RCV004528943
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Asp71Glu
CA346867
NM_001330397.2:c.213C>G
CA400327796
NM_001330397.2:c.213C>A