Canonical Allele Identifier: PA2828448802
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1923024
ClinVar RCV Id: RCV002617941

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357681.1:p.Met141Ile
CA351606182
NM_001370752.1:c.423G>A
CA351606183
NM_001370752.1:c.423G>C
CA351606184
NM_001370752.1:c.423G>T