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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:
PA2741970677
Gene: ABCB4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2996823
ClinVar RCV Id:
RCV003858958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061338.1:p.Gly622Ala
CA368034520
NM_018850.3:c.1865G>C