ClinGen Allele Registry
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Canonical Allele Identifier:
CA2969346380
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999697G>A , CM000670.2:g.126999697G>A
GRCh38
NC_000008.10:g.128011942G>A , CM000670.1:g.128011942G>A
GRCh37
NC_000008.9:g.128081124G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1301-6858G>A
Search 100 bp 5'
Search 100 bp 3'