Canonical Allele Identifier: CA2731515004
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2142086196

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152625_80152632del , CM000677.2:g.80152625_80152632del GRCh38
NC_000015.9:g.80444967_80444974del , CM000677.1:g.80444967_80444974del GRCh37
NC_000015.8:g.78232022_78232029del NCBI36
NG_012833.1:g.4627_4634del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+80_-30+87del ENSP00000453152.1:n.-30+80_-30+87del