ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022746
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
555043
ClinVar RCV Id:
RCV000670783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Pro408Ser
CA7644760
NM_001318825.2:c.1222C>T