ClinGen Allele Registry
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Canonical Allele Identifier:
CA2059285037
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501435G= , CM000674.2:g.102501435G=
GRCh38
NC_000012.11:g.102895213G= , CM000674.1:g.102895213G=
GRCh37
NC_000012.10:g.101419343G=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001749289.1:n.1952+17547G=
Search 100 bp 5'
Search 100 bp 3'