Canonical Allele Identifier: CA971893515
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152592-C-CTG
gnomAD v4: 15-80152592-C-CTG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152593_80152594dup , CM000677.2:g.80152593_80152594dup GRCh38
NC_000015.9:g.80444935_80444936dup , CM000677.1:g.80444935_80444936dup GRCh37
NC_000015.8:g.78231990_78231991dup NCBI36
NG_012833.1:g.4595_4596dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+48_-30+49dup ENSP00000453152.1:n.-30+48_-30+49dup
Search 100 bp 5'
Search 100 bp 3'