ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826816828
Gene: HEXB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3884
ClinVar RCV Id:
RCV000004088
RCV001238377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278933.1:p.Pro279Ser
CA116493
NM_001292004.1:c.835C>T