ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825206249
Gene: HEXA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003100529
ClinVar Variation:
2169094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Ala17Val
CA393070729
NM_000520.6:c.50C>T