Canonical Allele Identifier: CA2629872541
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152623_80152651del , CM000677.2:g.80152623_80152651del GRCh38
NC_000015.9:g.80444965_80444993del , CM000677.1:g.80444965_80444993del GRCh37
NC_000015.8:g.78232020_78232048del NCBI36
NG_012833.1:g.4625_4653del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+78_-30+106del ENSP00000453152.1:n.-30+78_-30+106del