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: PA658810896

Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 533540

ClinVar RCV Id: RCV000640701 RCV002492997 RCV003303027

ClinVar Variation Id: 862031

ClinVar RCV Id: RCV001068669 RCV002473190 RCV003307924

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003664.1:p.Arg17Pro	CA8532824 NM_003673.4:c.50G>C CA658798824 NM_003673.4:c.50_51delinsCT