Canonical Allele Identifier: PA2826257677
Gene: ALDH7A1 HGNC NCBI
ClinVar RCV:
RCV003091872
ClinVar Variation:
2166653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189333.2:p.Arg454Lys
CA3389372
NM_001202404.2:c.1361G>A