ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573199309
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1414055
ClinVar RCV Id:
RCV001930361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Lys393Thr
CA272610823
NM_001318825.2:c.1178A>C