ClinGen Allele Registry
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Canonical Allele Identifier:
CA2055289540
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.93293254T= , CM000674.2:g.93293254T=
GRCh38
NC_000012.11:g.93687030T= , CM000674.1:g.93687030T=
GRCh37
NC_000012.10:g.92211161T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040096.1:n.329+34773A=
Search 100 bp 5'
Search 100 bp 3'