ClinGen Allele Registry
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Canonical Allele Identifier:
CA2838031392
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.97269790G>T , CM000670.2:g.97269790G>T
GRCh38
NC_000008.10:g.98282018G>T , CM000670.1:g.98282018G>T
GRCh37
NC_000008.9:g.98351194G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125390.1:n.471+149280C>A
Search 100 bp 5'
Search 100 bp 3'