ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828330319
Gene: KMT5B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2498520
ClinVar RCV Id:
RCV003222729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356355.1:p.Ser740Pro
CA381588482
NM_001369426.1:c.2218T>C