ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827310876
Gene: MKS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317326.1:p.Gly255Arg
CA8669413
NM_001330397.2:c.763G>C
CA8669415
NM_001330397.2:c.763G>A