Canonical Allele Identifier: CA971893509
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2142086152
gnomAD v3: 15-80152591-A-C
gnomAD v4: 15-80152591-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152591A>C , CM000677.2:g.80152591A>C GRCh38
NC_000015.9:g.80444933A>C , CM000677.1:g.80444933A>C GRCh37
NC_000015.8:g.78231988A>C NCBI36
NG_012833.1:g.4593A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+46A>C ENSP00000453152.1:n.-30+46A>C
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