ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA278353
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25097
ClinVar RCV Id:
RCV000022022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000051.1:p.Gln511Glu
CA278352
NM_000060.4:c.1531C>G