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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:
PA2825222880
Gene: ABCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2355633
ClinVar RCV Id:
RCV004193203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000918.2:p.Leu19Gln
CA4328713
NM_000927.5:c.56T>A