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: PA2827654069

Gene: HLCS HGNC NCBI

Linked Data

ClinVar Variation Id: 418250

ClinVar RCV Id: RCV000478103 RCV001405509 RCV002526512

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339447.1:p.Val317Leu	CA10020583 NM_001352518.2:c.949G>T CA409911951 NM_001352518.2:c.949G>C