ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139671137
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
900999
ClinVar RCV Id:
RCV001146602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Ile384Val
CA2692362
NM_000055.4:c.1150A>G