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Canonical Allele Identifier: Get Identifier
Gene: FAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507314.1:p.[Pro5_Phe12delinsArgTrpProArgIleProThrSer;Ile14_Leu17delinsSerThrThrCys;Tyr19_Phe22delinsThrAlaSer;Thr24_Pro30delinsArgProGluAlaThrGlnAsp;Ile32del;Val34del]
CA16041752
ENST00000684363.1:c.14del