Canonical Allele Identifier: PA2826257630
Gene: ALDH7A1 HGNC NCBI
ClinVar RCV:
RCV003037113
ClinVar Variation:
2136321
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189333.2:p.Cys414Ser
CA360721130
NM_001202404.2:c.1241G>C
CA360721136
NM_001202404.2:c.1240T>A