ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827090987
Gene: MKS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188334
ClinVar RCV Id:
RCV000168353
RCV000665745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308198.1:p.Ile78Ser
CA334638
NM_001321269.1:c.233T>G