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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:
PA2741817340
Gene: APOB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2925935
ClinVar RCV Id:
RCV003784029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000375.3:p.Asn3099Ser
CA345990613
NM_000384.3:c.9296A>G