ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313169
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_001173.2:p.Val185Ile
CA313168
NM_001182.5:c.553G>A