Canonical Allele Identifier: PA2580151461
Gene: ALDH7A1 HGNC NCBI
ClinVar RCV:
RCV002635323
ClinVar Variation:
1929376
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001173.2:p.Tyr526Ter
CA2580072496
NM_001182.5:c.1578_1582del
CA2675066670
NM_001182.5:c.1574_1577dup