Canonical Allele Identifier: CA971894045
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041059055
gnomAD v3: 15-80152684-ACCT-A
gnomAD v4: 15-80152684-ACCT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152685_80152687del , CM000677.2:g.80152685_80152687del GRCh38
NC_000015.9:g.80445027_80445029del , CM000677.1:g.80445027_80445029del GRCh37
NC_000015.8:g.78232082_78232084del NCBI36
NG_012833.1:g.4687_4689del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+140_-30+142del ENSP00000453152.1:n.-30+140_-30+142del
Search 100 bp 5'
Search 100 bp 3'