ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829919077
Gene: MKKS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
463179
ClinVar RCV Id:
RCV000530180
RCV001142559
RCV001081965
RCV001142558
RCV004541679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061336.1:p.Ser253Pro
CA9763633
NM_018848.3:c.757T>C