Canonical Allele Identifier: CA2731515126
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2142086232

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152638_80152639insTCA , CM000677.2:g.80152638_80152639insTCA GRCh38
NC_000015.9:g.80444980_80444981insTCA , CM000677.1:g.80444980_80444981insTCA GRCh37
NC_000015.8:g.78232035_78232036insTCA NCBI36
NG_012833.1:g.4640_4641insTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+93_-30+94insTCA ENSP00000453152.1:n.-30+93_-30+94insTCA