ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1552561759
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.66487964G= , CM000667.2:g.66487964G=
GRCh38
NC_000005.9:g.65783792G= , CM000667.1:g.65783792G=
GRCh37
NC_000005.8:g.65819548G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_948381.1:n.649-48872G=
Search 100 bp 5'
Search 100 bp 3'