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: PA2825338211

Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 224976

ClinVar RCV Id: RCV000210606

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001020114.1:p.Ser254Arg	CA357217 NM_001024943.2:c.762C>A CA367645177 NM_001024943.2:c.760A>C CA367645181 NM_001024943.2:c.762C>G