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: PA2580386719

Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1707086

ClinVar RCV Id: RCV002286002

ClinVar Variation Id: 3233668

ClinVar RCV Id: RCV004526518

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056065.1:p.Asn700Lys	CA374033579 NM_015250.4:c.2100C>A CA374033582 NM_015250.4:c.2100C>G