ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253465
Gene: MKKS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5316
ClinVar RCV Id:
RCV000005641
RCV000990288
RCV001376920
RCV002307354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_740754.1:p.Thr57Ala
CA253464
NM_170784.3:c.169A>G