ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825206342
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
838291
ClinVar RCV Id:
RCV001039808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Arg36Cys
CA393070537
NM_000520.6:c.106C>T