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: PA1139690792

Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 838007

ClinVar RCV Id: RCV001039464

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly278Val	CA400222540 NM_000088.4:c.833G>T CA916081210 NM_000088.4:c.833_834delinsTT