ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658809162
Gene: NSD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000764592
RCV002395648
RCV003156267
RCV003231557
ClinVar Variation:
524708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Pro493Leu
CA3577099
NM_022455.5:c.1478C>T