Canonical Allele Identifier: PA2825039271
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 3133359
ClinVar RCV Id: RCV004426252

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000046.1:p.Phe392Leu
CA355111226
NM_000055.4:c.1176T>G
CA355111227
NM_000055.4:c.1176T>A
CA355111232
NM_000055.4:c.1174T>C