ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099354
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3925
ClinVar RCV Id:
RCV000004131
RCV002345229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Arg170Trp
CA252927
NM_000520.6:c.508C>T