ClinGen Allele Registry
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Canonical Allele Identifier:
CA2838504197
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.24460405G>A , CM000676.2:g.24460405G>A
GRCh38
NC_000014.8:g.24929611G>A , CM000676.1:g.24929611G>A
GRCh37
NC_000014.7:g.23999451G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110032.1:n.1478+14833G>A
Search 100 bp 5'
Search 100 bp 3'