Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA645492350

Gene: ALDH7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420896

ClinVar RCV Id: RCV000479462 RCV002525855

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001173.2:p.Met517Ile	CA16618099 NM_001182.5:c.1551G>A CA360718891 NM_001182.5:c.1551G>T CA360718893 NM_001182.5:c.1551G>C