Canonical Allele Identifier: PA2573180768
Gene: ALDH7A1 HGNC NCBI
ClinVar RCV:
RCV001998861
ClinVar Variation:
1483613
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001173.2:p.Arg506Lys
CA360719329
NM_001182.5:c.1517G>A