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: PA2826090485

Gene: AAAS HGNC NCBI

Linked Data

ClinVar Variation Id: 5047

ClinVar RCV Id: RCV002508104

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166937.1:p.Leu397Phe	CA117229 NM_001173466.2:c.1189C>T