ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139686306
Gene: THBD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
899344
ClinVar RCV Id:
RCV001143807
RCV002482272
RCV002559387
RCV003546650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000352.1:p.Arg567Gln
CA9787508
NM_000361.3:c.1700G>A