Canonical Allele Identifier: PA2827195733
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 25018
ClinVar RCV Id: RCV000021938 RCV000078074 RCV000623242
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Lys156Asn
CA220325
NM_001323582.1:c.468G>T
CA351606282
NM_001323582.1:c.468G>C