ClinGen Allele Registry
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Canonical Allele Identifier:
CA2002576389
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116442808C= , CM000673.2:g.116442808C=
GRCh38
NC_000011.9:g.116313525C= , CM000673.1:g.116313525C=
GRCh37
NC_000011.8:g.115818735C=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001748403.1:n.349+31069G=
Search 100 bp 5'
Search 100 bp 3'