ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826816831
Gene: HEXB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3879
ClinVar RCV Id:
RCV000004083
RCV000669552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278933.1:p.Arg280Gln
CA116487
NM_001292004.1:c.839G>A