ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825206415
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1906122
ClinVar RCV Id:
RCV002588966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Pro56Arg
CA393070312
NM_000520.6:c.167C>G