Canonical Allele Identifier: CA2629872620
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152658_80152659insAG , CM000677.2:g.80152658_80152659insAG GRCh38
NC_000015.9:g.80445000_80445001insAG , CM000677.1:g.80445000_80445001insAG GRCh37
NC_000015.8:g.78232055_78232056insAG NCBI36
NG_012833.1:g.4660_4661insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+113_-30+114insAG ENSP00000453152.1:n.-30+113_-30+114insAG