Canonical Allele Identifier: PA2827195960
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1675907
ClinVar RCV Id: RCV002214276 RCV003475304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Cys404Ser
CA278318
NM_001323582.1:c.1211G>C
CA351608437
NM_001323582.1:c.1210T>A