ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093178
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13219
ClinVar RCV Id:
RCV000014116
RCV000360109
RCV003914839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Gly418Val
CA122966
NM_000055.4:c.1253G>T