Canonical Allele Identifier: CA971893243
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152520-AAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCC-A
gnomAD v4: 15-80152520-AAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152523_80152558del , CM000677.2:g.80152523_80152558del GRCh38
NC_000015.9:g.80444865_80444900del , CM000677.1:g.80444865_80444900del GRCh37
NC_000015.8:g.78231920_78231955del NCBI36
NG_012833.1:g.4525_4560del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-52_-30+13del
Search 100 bp 5'
Search 100 bp 3'