ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1649280293
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.97571204A= , CM000668.2:g.97571204A=
GRCh38
NC_000006.11:g.98019080A= , CM000668.1:g.98019080A=
GRCh37
NC_000006.10:g.98125801A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110757.1:n.512-40964A=
Search 100 bp 5'
Search 100 bp 3'