ClinGen Allele Registry
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Canonical Allele Identifier:
CA1818109652
Community Standard Title: NC_000008.11:g.126889758G=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126889758G= , CM000670.2:g.126889758G=
GRCh38
NC_000008.10:g.127902003G= , CM000670.1:g.127902003G=
GRCh37
NC_000008.9:g.127971185G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1300+11968G=
Search 100 bp 5'
Search 100 bp 3'