ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022695
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197682
ClinVar RCV Id:
RCV000520360
RCV001832027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.His190Arg
CA245951
NM_001318825.2:c.569A>G