ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826816853
Gene: HEXB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435415
ClinVar RCV Id:
RCV000502357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278933.1:p.Arg308Cys
CA3306210
NM_001292004.1:c.922C>T