ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294952
Gene: NSD1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003231265
ClinVar Variation:
159365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Leu1797Pro
CA294950
NM_022455.5:c.5390T>C