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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:
PA352046
Gene: FHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222636
ClinVar RCV Id:
RCV000208453
RCV001770157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001440.2:p.Cys255Trp
CA352044
NM_001449.4:c.765C>G