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: PA2580336642

Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2172292

ClinVar RCV Id: RCV003087349

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_006260.1:p.Phe833Leu	CA4751548 NM_006269.2:c.2497T>C CA370993979 NM_006269.2:c.2499T>A CA370993980 NM_006269.2:c.2499T>G