Canonical Allele Identifier: PA2580151429
Gene: ALDH7A1 HGNC NCBI
ClinVar RCV:
RCV003037113
ClinVar Variation:
2136321
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001173.2:p.Cys478Ser
CA360721130
NM_001182.5:c.1433G>C
CA360721136
NM_001182.5:c.1432T>A