ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580202564
Gene: HEXA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003100529
ClinVar Variation:
2169094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Ala17Val
CA393070729
NM_001318825.2:c.50C>T