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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:
PA2825934623
Gene: FHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1136814
ClinVar RCV Id:
RCV001472604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153175.1:p.Pro194Gln
CA414609797
NM_001159703.2:c.581C>A