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: PA1139678448

Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 841162

ClinVar RCV Id: RCV002320255 RCV002552524

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000134.2:p.Ala104Thr	CA345440826 NM_000143.4:c.310G>A