ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022647
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189126
ClinVar RCV Id:
RCV000169541
RCV000255876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Met1Thr