ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580511048
Gene: MKKS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1969080
ClinVar RCV Id:
RCV002716986
RCV004545382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_740754.1:p.Ile313Val
CA9763603
NM_170784.3:c.937A>G