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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:
PA2826050264
Gene: FHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1463140
ClinVar RCV Id:
RCV001960903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161291.1:p.Leu259Val
CA414609813
NM_001167819.1:c.775C>G