Canonical Allele Identifier: CA2629872573
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152637-GCGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152638_80152640del , CM000677.2:g.80152638_80152640del GRCh38
NC_000015.9:g.80444980_80444982del , CM000677.1:g.80444980_80444982del GRCh37
NC_000015.8:g.78232035_78232037del NCBI36
NG_012833.1:g.4640_4642del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+93_-30+95del ENSP00000453152.1:n.-30+93_-30+95del
Search 100 bp 5'
Search 100 bp 3'