ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA338008
Gene: MKKS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215903
ClinVar RCV Id:
RCV000782192
RCV000990283
RCV001087733
RCV001137687
RCV001699063
RCV004528986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_740754.1:p.Arg518His
CA338007
NM_170784.3:c.1553G>A