ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1818149358
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999455C= , CM000670.2:g.126999455C=
GRCh38
NC_000008.10:g.128011700C= , CM000670.1:g.128011700C=
GRCh37
NC_000008.9:g.128080882C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1301-7100C=
Search 100 bp 5'
Search 100 bp 3'