Canonical Allele Identifier: PA2827090349
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217677
ClinVar RCV Id: RCV000201670 RCV000241545 RCV000414929 RCV000691391 RCV001272923 RCV000665372 RCV001197092
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Ser169del
CA210292
NM_001321268.1:c.506_508del