ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022723
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3902
ClinVar RCV Id:
RCV000004108
RCV002226437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Gly261Asp
CA116502
NM_001318825.2:c.782G>A