ClinGen Allele Registry
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Canonical Allele Identifier:
CA2381739183
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.22259377T= , CM000683.2:g.22259377T=
GRCh38
NC_000021.8:g.23631697T= , CM000683.1:g.23631697T=
GRCh37
NC_000021.7:g.22553568T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754978.1:n.221+46564T=
Search 100 bp 5'
Search 100 bp 3'