ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA295044
Gene: NSD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159402
ClinVar RCV Id:
RCV003231301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Thr2029Ile
CA295042
NM_022455.5:c.6086C>T