Canonical Allele Identifier: CA2629872648
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152666-A-AGGGGAGGGGGGGGGCGAGGGGGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152669_80152670insGAGGGGGGGGGCGAGGGGGGGGGGGG , CM000677.2:g.80152669_80152670insGAGGGGGGGGGCGAGGGGGGGGGGGG GRCh38
NC_000015.9:g.80445011_80445012insGAGGGGGGGGGCGAGGGGGGGGGGGG , CM000677.1:g.80445011_80445012insGAGGGGGGGGGCGAGGGGGGGGGGGG GRCh37
NC_000015.8:g.78232066_78232067insGAGGGGGGGGGCGAGGGGGGGGGGGG NCBI36
NG_012833.1:g.4671_4672insGAGGGGGGGGGCGAGGGGGGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+124_-30+125insGAGGGGGGGGGCGAGGGGGGGGGGGG ENSP00000453152.1:n.-30+124_-30+125insGAGGGGGGGGGCGAGGGGGGGGG...
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