ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828330848
Gene: KMT5B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2633735
ClinVar RCV Id:
RCV004552484
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356360.1:p.Leu623Ile
CA6148017
NM_001369431.1:c.1867C>A