Canonical Allele Identifier: CA971893686
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041057499
gnomAD v3: 15-80152632-GCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT-G
gnomAD v4: 15-80152632-GCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152639_80152707del , CM000677.2:g.80152639_80152707del GRCh38
NC_000015.9:g.80444981_80445049del , CM000677.1:g.80444981_80445049del GRCh37
NC_000015.8:g.78232036_78232104del NCBI36
NG_012833.1:g.4641_4709del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+94_-30+162del ENSP00000453152.1:n.-30+94_-30+162del
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