ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022653
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
811826
ClinVar RCV Id:
RCV001002232
RCV001827157
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Leu11Pro
CA7645127
NM_001318825.2:c.32T>C