ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826591730
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38579
ClinVar RCV Id:
RCV000032022
RCV000520641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268654.1:p.Asn194Ser
CA278395
NM_001281725.2:c.581A>G