ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891850151
Gene: HEXA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000706870
ClinVar Variation:
582729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Thr358Met
CA7644829
NM_000520.6:c.1073C>T