ClinGen Allele Registry
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Canonical Allele Identifier:
PA172863
Gene: NSD1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000146951
RCV000723554
RCV003162516
RCV003231151
ClinVar Variation:
96078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Leu2533Val
CA172861
NM_022455.5:c.7597C>G