ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160636
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134732
ClinVar RCV Id:
RCV000121444
RCV001496616
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg185Cys
CA160635
NM_003482.4:c.553C>T