ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063088366
Gene: BCHE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005529318
ClinVar Variation:
3990953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Arg481Lys
CA355110639
NM_000055.4:c.1442G>A