ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828445916
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
36367
ClinVar RCV:
RCV000032022
RCV000520641
ClinVar Variation:
38579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357587.1:p.Asn194Ser
CA278395
NM_001370658.1:c.581A>G