ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825206438
Gene: HEXA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004404363
ClinVar Variation:
3105522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Asp62Tyr
CA393070258
NM_000520.6:c.184G>T