Canonical Allele Identifier: CA971893496
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152587_80152614del , CM000677.2:g.80152587_80152614del GRCh38
NC_000015.9:g.80444929_80444956del , CM000677.1:g.80444929_80444956del GRCh37
NC_000015.8:g.78231984_78232011del NCBI36
NG_012833.1:g.4589_4616del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+42_-30+69del ENSP00000453152.1:n.-30+42_-30+69del