ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827091758
Gene: MKS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308198.1:p.Glu444_Phe449delinsVal
CA658823777
NM_001321269.1:c.1331_1345del