Canonical Allele Identifier: CA971893371
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152564-GGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA-G
gnomAD v4: 15-80152564-GGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152573_80152621del , CM000677.2:g.80152573_80152621del GRCh38
NC_000015.9:g.80444915_80444963del , CM000677.1:g.80444915_80444963del GRCh37
NC_000015.8:g.78231970_78232018del NCBI36
NG_012833.1:g.4575_4623del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+28_-30+76del ENSP00000453152.1:n.-30+28_-30+76del
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