ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022721
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381668
ClinVar RCV Id:
RCV000443171
RCV000675102
RCV003987533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Gly261Ser
CA16606775
NM_001318825.2:c.781G>A