Canonical Allele Identifier: CA2190327059
Gene: FAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152655_80152660delinsCTCAGG , CM000677.2:g.80152655_80152660delinsCTCAGG GRCh38
NC_000015.9:g.80444997_80445002delinsCTCAGG , CM000677.1:g.80444997_80445002delinsCTCAGG GRCh37
NC_000015.8:g.78232052_78232057delinsCTCAGG NCBI36
NG_012833.1:g.4657_4662delinsCTCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+110_-30+115delinsCTCAGG ENSP00000453152.1:n.-30+110_-30+115delinsCTCAGG
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