ClinGen Allele Registry
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Canonical Allele Identifier:
CA1596629191
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.162656619G= , CM000667.2:g.162656619G=
GRCh38
NC_000005.9:g.162083625G= , CM000667.1:g.162083625G=
GRCh37
NC_000005.8:g.162016203G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742958.1:n.418+3483C=
Search 100 bp 5'
Search 100 bp 3'