ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658666442
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465325
ClinVar RCV Id:
RCV000544167
RCV002404449
RCV003441932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Ser520Phe
CA360718807
NM_001182.5:c.1559C>T