Allele Registry

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.

Canonical Allele Identifier: PA2825934002

Gene: FHL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 838540

ClinVar RCV Id: RCV001040107 RCV001555387 RCV003160257

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153172.1:p.Val257Leu	CA10525128 NM_001159700.2:c.769G>C CA414609798 NM_001159700.2:c.769G>T