ClinGen Allele Registry
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Canonical Allele Identifier:
CA1800979847
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88981187C= , CM000670.2:g.88981187C=
GRCh38
NC_000008.10:g.89993416C= , CM000670.1:g.89993416C=
GRCh37
NC_000008.9:g.90062532C=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956667.1:n.179-99126G=
Search 100 bp 5'
Search 100 bp 3'