ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828330842
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_001356360.1:p.Ser572Asn
CA6148035
NM_001369431.1:c.1715G>A