Canonical Allele Identifier: PA2580151450
Gene: ALDH7A1 HGNC NCBI
ClinVar RCV:
RCV003091872
ClinVar Variation:
2166653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001173.2:p.Arg518Lys
CA3389372
NM_001182.5:c.1553G>A