ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093130
Gene: BCHE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
28260
ClinVar RCV:
RCV000014124
RCV003323358
ClinVar Variation:
13221
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Glu525Val
CA122968
NM_000055.4:c.1574A>T