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: PA110023

Gene: ALDH7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17998

ClinVar RCV Id: RCV000019614

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001173.2:p.Ala199Val	CA258077 NM_001182.5:c.596C>T