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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:
PA2827580613
Gene: LMBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100875
ClinVar RCV Id:
RCV000087237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337886.1:p.Leu31Ile
CA229177
NM_001350957.2:c.91C>A