ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246223
Gene: NSD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197850
ClinVar RCV Id:
RCV000178985
RCV003231359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Ser1128Phe
CA246221
NM_022455.5:c.3383C>T