ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916022735
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
649716
ClinVar RCV Id:
RCV000804707
RCV001284498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Gly354Val
CA7644838
NM_001318825.2:c.1061G>T