ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580454600
Gene: NSD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2077350
ClinVar RCV Id:
RCV003232745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Cys2202Phe
CA362324284
NM_022455.5:c.6605G>T