Canonical Allele Identifier: CA2629872713
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152715-GGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152723_80152804del , CM000677.2:g.80152723_80152804del GRCh38
NC_000015.9:g.80445065_80445146del , CM000677.1:g.80445065_80445146del GRCh37
NC_000015.8:g.78232120_78232201del NCBI36
NG_012833.1:g.4725_4806del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+178_-29-222del ENSP00000453152.1:n.-30+178_-29-222del
Search 100 bp 5'
Search 100 bp 3'