ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3070936920
Gene: NSD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Ala691Ser
CA362313585
NM_022455.5:c.2071G>T