ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093006
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
554916
ClinVar RCV Id:
RCV000670632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Ala356Asp
CA2692382
NM_000055.4:c.1067C>A