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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:
PA2827458811
Gene: ABCB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13698
ClinVar RCV Id:
RCV000014697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335875.1:p.Gly185Val
CA123373
NM_001348946.2:c.554G>T