ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826816807
Gene: HEXB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372685
ClinVar RCV Id:
RCV000414444
RCV000984275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278933.1:p.Gly248Ser
CA3306126
NM_001292004.1:c.742G>A