ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825206982
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1328994
ClinVar RCV Id:
RCV001797885
RCV002034661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Thr303Pro
CA393062423
NM_000520.6:c.907A>C