ClinGen Allele Registry
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Canonical Allele Identifier:
CA2199689284
Community Standard Title: NC_000015.10:g.99759034G=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.99759034G= , CM000677.2:g.99759034G=
GRCh38
NC_000015.9:g.100299239G= , CM000677.1:g.100299239G=
GRCh37
NC_000015.8:g.98116762G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_932716.1:n.172-12090G=
Search 100 bp 5'
Search 100 bp 3'