ClinGen Allele Registry
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Canonical Allele Identifier:
CA1796404092
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191195G= , CM000670.2:g.79191195G=
GRCh38
NC_000008.10:g.80103430G= , CM000670.1:g.80103430G=
GRCh37
NC_000008.9:g.80265985G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745720.1:n.105+824G=
Search 100 bp 5'
Search 100 bp 3'