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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:
PA2826112024
Gene: LMX1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498798
ClinVar RCV Id:
RCV000594256
RCV001281185
RCV001328157
RCV001807647
RCV002476296
RCV003994037
RCV003915707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167618.1:p.Arg246Gln
CA500006
NM_001174147.2:c.737G>A