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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:
PA2825316115
Gene: LAMB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2383304
ClinVar RCV Id:
RCV002689367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017402.1:p.Arg960Cys
CA1375073
NM_001017402.2:c.2878C>T