ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573199258
Gene: HEXA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001913356
ClinVar Variation:
1402093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Ala20Val
CA7645121
NM_001318825.2:c.59C>T