ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828448582
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.Gly25Arg
CA081852
NM_001370752.1:c.[73G>A;1015+196G>C]
CA241269
NM_001370752.1:c.73G>A
CA351602869
NM_001370752.1:c.73G>C