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: PA2825698859

Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 952793

ClinVar RCV Id: RCV001224970

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124174.2:p.His219Gln	CA223631215 NM_001130702.2:c.657C>G CA380961952 NM_001130702.2:c.657C>A