ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139689317
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001225689
ClinVar Variation:
953400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Gly489Glu
CA360720944
NM_001182.5:c.1466G>A