Canonical Allele Identifier: CA2629872543
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152618-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152618G>T , CM000677.2:g.80152618G>T GRCh38
NC_000015.9:g.80444960G>T , CM000677.1:g.80444960G>T GRCh37
NC_000015.8:g.78232015G>T NCBI36
NG_012833.1:g.4620G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+73G>T ENSP00000453152.1:n.-30+73G>T
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