ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825207366
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2432445
ClinVar RCV Id:
RCV003131127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Thr445Ala
CA393059414
NM_000520.6:c.1333A>G