ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA295017
Gene: NSD1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000493770
RCV003231291
ClinVar Variation:
159392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Tyr1997His
CA295015
NM_022455.5:c.5989T>C