ClinGen Allele Registry
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Canonical Allele Identifier:
PA248754
Gene: NSD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146778
RCV001573383
RCV002312650
RCV003231183
ClinVar Variation:
159279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Ala691Thr
CA248752
NM_022455.5:c.2071G>A