ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826855322
Gene: KMT5B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521155
ClinVar RCV Id:
RCV000623268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287836.1:p.Arg549His
CA381588653
NM_001300907.1:c.1646G>A