ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487570
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
344092
ClinVar RCV Id:
RCV000265515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Gly393Val
CA10615760
NM_000055.4:c.1178G>T