ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826592439
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2501355
ClinVar RCV Id:
RCV003227150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268655.2:p.Ala55Ser
CA351603450
NM_001281726.2:c.163G>T