ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827090232
Gene: MKS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308197.1:p.Arg109Gln
CA400326142
NM_001321268.1:c.326G>A