ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580406843
Gene: KMT5B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2222698
ClinVar RCV Id:
RCV002707113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060105.3:p.Ser744Asn
CA6148035
NM_017635.5:c.2231G>A