ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916004144
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204830
ClinVar RCV Id:
RCV000186726
RCV000702625
RCV002517836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189333.2:p.Val185Ile
CA313168
NM_001202404.2:c.553G>A