Canonical Allele Identifier: CA971892991
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152490-AGG-A
gnomAD v4: 15-80152490-AGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152493_80152494del , CM000677.2:g.80152493_80152494del GRCh38
NC_000015.9:g.80444835_80444836del , CM000677.1:g.80444835_80444836del GRCh37
NC_000015.8:g.78231890_78231891del NCBI36
NG_012833.1:g.4495_4496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-82_-81del ENSP00000453152.1:n.-82_-81del
Search 100 bp 5'
Search 100 bp 3'