ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645492342
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373649
ClinVar RCV Id:
RCV000413292
RCV000799588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Ile459Thr
CA16042571
NM_001182.5:c.1376T>C