ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413884
Gene: MKS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260879
ClinVar RCV Id:
RCV000243397
RCV000665282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060247.2:p.Thr355Ala
CA8669296
NM_017777.4:c.1063A>G