ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828330738
Gene: KMT5B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2662558
ClinVar RCV Id:
RCV003441223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356359.1:p.Ser658Phe
CA381586731
NM_001369430.1:c.1973C>T