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: PA2741820503

Gene: ALDH1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2604132

ClinVar RCV Id: RCV003343255

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000684.2:p.Asp509Glu	CA393949469 NM_000693.4:c.1527C>A CA393949470 NM_000693.4:c.1527C>G