Canonical Allele Identifier: CA2687741432
Gene:

Linked Data

gnomAD v4: 8-81478371-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.81478371A>T , CM000670.2:g.81478371A>T GRCh38
NC_000008.10:g.82390606A>T , CM000670.1:g.82390606A>T GRCh37
NC_000008.9:g.82553161A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745980.1:n.514+16397A>T
Search 100 bp 5'
Search 100 bp 3'