ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825206225
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1957551
ClinVar RCV Id:
RCV002720532
RCV003269249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Arg5Gly
CA393070869
NM_000520.6:c.13A>G