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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:
PA2825462360
Gene: LDB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4727
ClinVar RCV Id:
RCV000004992
RCV000255980
RCV000770149
RCV003483424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073583.1:p.Ala147Thr
CA253255
NM_001080114.2:c.439G>A