ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580202881
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1982939
ClinVar RCV Id:
RCV002766924
RCV002785671
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Ile400Val
CA7644768
NM_001318825.2:c.1198A>G