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: PA915968685

Gene: ASPA HGNC NCBI

Linked Data

ClinVar Variation Id: 695346

ClinVar RCV Id: RCV001271641 RCV002363205 RCV002469308

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121557.1:p.Glu235Lys	CA8289016 NM_001128085.1:c.703G>A