ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658826515
Gene: BCHE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
542916
ClinVar RCV:
RCV000666679
ClinVar Variation:
551580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Val421del
CA547857060
NM_000055.4:c.1262_1264del