ClinGen Allele Registry
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Canonical Allele Identifier:
CA2110356985
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.91363723G= , CM000675.2:g.91363723G=
GRCh38
NC_000013.10:g.92015977G= , CM000675.1:g.92015977G=
GRCh37
NC_000013.9:g.90813978G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749962.1:n.2928G=
Search 100 bp 5'
Search 100 bp 3'