Allele Registry

Canonical Allele Identifier: PA645508504

Gene: THBD HGNC NCBI

ClinVar Allele:

334922

ClinVar RCV:

RCV000302594

RCV001516722

RCV001643035

RCV002294300

RCV003969973

ClinVar Variation:

337883

HGVS (amino-acid)	Matching Registered Transcripts
NP_000352.1:p.Ala473Val	CA9787562 NM_000361.3:c.1418C>T