ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825206345
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2169082
ClinVar RCV Id:
RCV003093066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Arg36Pro
CA393070535
NM_000520.6:c.107G>C