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: PA2825519127

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 2138464

ClinVar RCV Id: RCV003064666

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078895.2:p.Gly303Arg	CA412174713 NM_001085426.3:c.907G>C CA412174715 NM_001085426.3:c.907G>A