ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA200250
Gene: MKKS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100586
ClinVar RCV Id:
RCV000086969
RCV000173033
RCV000585746
RCV000677321
RCV001083442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_740754.1:p.Ile339Val
CA200249
NM_170784.3:c.1015A>G