Canonical Allele Identifier: CA2190326611
Gene: FAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152515_80152520delinsGAGGCA , CM000677.2:g.80152515_80152520delinsGAGGCA GRCh38
NC_000015.9:g.80444857_80444862delinsGAGGCA , CM000677.1:g.80444857_80444862delinsGAGGCA GRCh37
NC_000015.8:g.78231912_78231917delinsGAGGCA NCBI36
NG_012833.1:g.4517_4522delinsGAGGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-60_-55delinsGAGGCA ENSP00000453152.1:n.-60_-55delinsGAGGCA
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