ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827090862
Gene: MKS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461764
ClinVar RCV Id:
RCV000538877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308198.1:p.Arg22Ser
CA292016708
NM_001321269.1:c.64C>A