ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413907
Gene: MKS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
324159
ClinVar RCV Id:
RCV000291999
RCV000346858
RCV000592032
RCV001850733
RCV002524429
RCV004529556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060247.2:p.Thr441Met
CA8669167
NM_017777.4:c.1322C>T