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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825039267
Gene: BCHE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3133356
ClinVar RCV Id:
RCV004426249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Pro363Thr
CA355111433
NM_000055.4:c.1087C>A