ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829463112
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3065903
ClinVar RCV Id:
RCV003989358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Ala2728Val
CA384743504
NM_003482.4:c.8183C>T