Canonical Allele Identifier: PA2826253530
Gene: ALDH7A1 HGNC NCBI
ClinVar RCV:
RCV003037113
ClinVar Variation:
2136321
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188306.1:p.Cys450Ser
CA360721130
NM_001201377.2:c.1349G>C
CA360721136
NM_001201377.2:c.1348T>A