ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2024154225
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28045193G= , CM000674.2:g.28045193G=
GRCh38
NC_000012.11:g.28198126G= , CM000674.1:g.28198126G=
GRCh37
NC_000012.10:g.28089393G=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_931460.1:n.154-6235C=
Search 100 bp 5'
Search 100 bp 3'