ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357903
Gene: UHMK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224812
ClinVar RCV Id:
RCV000210385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787062.1:p.Pro405Leu
CA357902
NM_175866.5:c.1214C>T