ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093031
Gene: BCHE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000666275
RCV003420176
ClinVar Variation:
551265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Arg414Cys
CA2692354
NM_000055.4:c.1240C>T