ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018435
Gene: HEXB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435414
ClinVar RCV Id:
RCV000500181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278933.1:p.Tyr35His
CA360066974
NM_001292004.1:c.103T>C