ClinGen Allele Registry
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Canonical Allele Identifier:
PA645413915
Gene: MKS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
271121
ClinVar RCV:
RCV000285730
RCV000335464
RCV000400230
RCV000514906
RCV001083793
RCV001094550
ClinVar Variation:
286884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060247.2:p.Arg463Gln
CA8669152
NM_017777.4:c.1388G>A