ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA278440
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
165807
ClinVar RCV:
RCV000144060
ClinVar Variation:
156003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000051.1:p.Thr234Ile
CA278439
NM_000060.4:c.701C>T