ClinGen Allele Registry
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Canonical Allele Identifier:
PA242364
Gene: NSD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195775
ClinVar RCV Id:
RCV000176423
RCV002362897
RCV003231358
RCV003491929
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Val2296Ala
CA242362
NM_022455.5:c.6887T>C