ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826144938
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_001171692.1:p.Pro331Leu
CA357902
NM_001184763.1:c.992C>T