Canonical Allele Identifier: PA916048644
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 38579
ClinVar RCV Id: RCV000032022 RCV000520641
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Asn194Ser
CA278395
NM_001370752.1:c.581A>G
CA357866
NM_001370752.1:c.[581A>G;1015+255G>C]