ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093207
Gene: BCHE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
28265
ClinVar RCV:
RCV000014130
RCV000665725
ClinVar Variation:
13226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Leu358Ile
CA122969
NM_000055.4:c.1072T>A