Canonical Allele Identifier: CA2190326765
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041056050
gnomAD v4: 15-80152569-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152569G>A , CM000677.2:g.80152569G>A GRCh38
NC_000015.9:g.80444911G>A , CM000677.1:g.80444911G>A GRCh37
NC_000015.8:g.78231966G>A NCBI36
NG_012833.1:g.4571G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+24G>A ENSP00000453152.1:n.-30+24G>A
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