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: PA916060897

Gene: ARSB HGNC NCBI

Linked Data

ClinVar Variation Id: 878

ClinVar RCV Id: RCV000000926 RCV000677550

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_942002.1:p.Cys117Arg	CA114601 NM_198709.3:c.349T>C