ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827195882
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1942484
ClinVar RCV Id:
RCV002646822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310511.1:p.Val322Ala
CA2277407
NM_001323582.1:c.965T>C