ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160632
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134730
ClinVar RCV Id:
RCV000121442
RCV000146178
RCV000285985
RCV000514629
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg5224His
CA160631
NM_003482.4:c.15671G>A