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Canonical Allele Identifier: Get Identifier
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016880294.1:p.Cys349Trp
CA251777
XM_017024805.1:c.1047T>G
CA2580573370
XM_017024805.1:c.[1047T>G;686_688del]