ClinGen Allele Registry
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Canonical Allele Identifier:
CA2470009399
Community Standard Title: NC_000024.10:g.8746097T=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.8746097T= , CM000686.2:g.8746097T=
GRCh38
NC_000024.9:g.8614138T= , CM000686.1:g.8614138T=
GRCh37
NC_000024.8:g.8674138T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000624593.1:c.-57+2619A=
ENSP00000485106.1:n.-57+2619A=
Search 100 bp 5'
Search 100 bp 3'