ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580283924
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2498069
ClinVar RCV Id:
RCV003219135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Asn2030Asp
CA384626702
NM_003482.4:c.6088A>G