ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499299934
Gene: MKKS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1047588
ClinVar RCV Id:
RCV001352323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_740754.1:p.Leu243Phe
CA408232476
NM_170784.3:c.727C>T