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.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2573301981

Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1422113

ClinVar RCV Id: RCV001926052

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_446464.1:p.Lys277Asn	CA375229530 NM_054012.4:c.831G>C CA375229531 NM_054012.4:c.831G>T