Canonical Allele Identifier: CA971893193
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152515-GA-G
gnomAD v4: 15-80152515-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152516del , CM000677.2:g.80152516del GRCh38
NC_000015.9:g.80444858del , CM000677.1:g.80444858del GRCh37
NC_000015.8:g.78231913del NCBI36
NG_012833.1:g.4518del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-59del ENSP00000453152.1:n.-59del
Search 100 bp 5'
Search 100 bp 3'