Canonical Allele Identifier: PA2828446074
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1994796
ClinVar RCV Id: RCV002791402

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357587.1:p.Pro321Leu
CA351607806
NM_001370658.1:c.962C>T