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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:
PA2828109504
Gene: LHX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449975
ClinVar RCV Id:
RCV000968854
RCV001168367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350675.1:p.Ala311Thr
CA5330282
NM_001363746.1:c.931G>A