Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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Canonical Allele Identifier: PA2825519276

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 342234

ClinVar RCV Id: RCV000348572

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078895.2:p.Ser420Arg	CA10324759 NM_001085426.3:c.1258A>C CA412169152 NM_001085426.3:c.1260C>G CA412169154 NM_001085426.3:c.1260C>A