ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487556
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370854
ClinVar RCV Id:
RCV000412062
RCV001844157
RCV002244851
RCV002252109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Ala212Val
CA2692459
NM_000055.4:c.635C>T