ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2687741457
Gene:
Linked Data
gnomAD v4:
8-81478403-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.81478403G>A , CM000670.2:g.81478403G>A
GRCh38
NC_000008.10:g.82390638G>A , CM000670.1:g.82390638G>A
GRCh37
NC_000008.9:g.82553193G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745980.1:n.514+16429G>A
Search 100 bp 5'
Search 100 bp 3'