Canonical Allele Identifier: CA2629872542
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152617-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152617G>C , CM000677.2:g.80152617G>C GRCh38
NC_000015.9:g.80444959G>C , CM000677.1:g.80444959G>C GRCh37
NC_000015.8:g.78232014G>C NCBI36
NG_012833.1:g.4619G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+72G>C ENSP00000453152.1:n.-30+72G>C
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