Canonical Allele Identifier: PA2827310539
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2096531
ClinVar RCV Id: RCV003028238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Ser17Phe
CA400328159
NM_001330397.2:c.50C>T