ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825039270
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3133358
ClinVar RCV Id:
RCV004426251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Lys383Ile
CA355111292
NM_000055.4:c.1148A>T