ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580104299
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2277992
ClinVar RCV Id:
RCV002818348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Cys20Gly
CA355113634
NM_000055.4:c.58T>G