ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499289223
Gene: NSD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Cys1689Phe
CA362303060
NM_022455.5:c.5066G>T