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: PA2825518315

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 1931009

ClinVar RCV Id: RCV002631353

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078894.2:p.Pro233Arg	CA412176703 NM_001085425.3:c.698C>G