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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:
PA645402687
Gene: ABCB4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372802
ClinVar RCV Id:
RCV000414549
RCV001331238
RCV002282130
RCV003227747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061337.1:p.Arg176Trp
CA4327523
NM_018849.3:c.526C>T