ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499289263
Gene: NSD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001730119
ClinVar Variation:
1299646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Ser2181Phe
CA362323846
NM_022455.5:c.6542C>T