ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916048681
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439039
ClinVar RCV Id:
RCV000508475
RCV000715008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.Ala279Pro
CA351607446
NM_001370752.1:c.835G>C