ClinGen Allele Registry
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Canonical Allele Identifier:
CA1649280294
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.97571204A>T , CM000668.2:g.97571204A>T
GRCh38
NC_000006.11:g.98019080A>T , CM000668.1:g.98019080A>T
GRCh37
NC_000006.10:g.98125801A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110757.1:n.512-40964A>T
Search 100 bp 5'
Search 100 bp 3'