Canonical Allele Identifier: PA2827195632
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 38574
ClinVar RCV Id: RCV000032017 RCV000506513
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Glu44Asp
CA278386
NM_001323582.1:c.132G>C
CA351603230
NM_001323582.1:c.132G>T