ClinGen Allele Registry
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Canonical Allele Identifier:
CA15767030
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.106556917T>C , CM000674.2:g.106556917T>C
GRCh38
NC_000012.11:g.106950695T>C , CM000674.1:g.106950695T>C
GRCh37
NC_000012.10:g.105474825T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040246.1:n.143-49107A>G
Search 100 bp 5'
Search 100 bp 3'