ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA16455261
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.106556209G>A , CM000674.2:g.106556209G>A
GRCh38
NC_000012.11:g.106949987G>A , CM000674.1:g.106949987G>A
GRCh37
NC_000012.10:g.105474117G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040246.1:n.143-48399C>T
Search 100 bp 5'
Search 100 bp 3'