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: PA2573162669

Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 1692243

ClinVar RCV Id: RCV002255864

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000134.2:p.Ala226Thr	CA345439263 NM_000143.4:c.676G>A