Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA105611

Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2873

ClinVar RCV Id: RCV000003007 RCV000505185

ClinVar Variation Id: 2027927

ClinVar RCV Id: RCV002866861

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_777596.2:p.Ser127Arg	CA023152 NM_174936.4:c.381T>A CA340483850 NM_174936.4:c.379A>C CA340483855 NM_174936.4:c.381T>G