ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA13673147
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.95318100A>C , CM000674.2:g.95318100A>C
GRCh38
NC_000012.11:g.95711876A>C , CM000674.1:g.95711876A>C
GRCh37
NC_000012.10:g.94236007A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000636165.1:n.1059-6646T>G
Search 100 bp 5'
Search 100 bp 3'