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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:
PA2828283339
Gene: LDB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4728
ClinVar RCV Id:
RCV000004993
RCV000036847
RCV000239669
RCV000493600
RCV000769278
RCV002247249
RCV003162208
RCV003934799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354997.1:p.Ala165Val
CA253258
NM_001368068.1:c.494C>T