ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2526782005
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9249558C>A , CM000678.2:g.9249558C>A
GRCh38
NC_000016.9:g.9343415C>A , CM000678.1:g.9343415C>A
GRCh37
NC_000016.8:g.9250916C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933054.1:n.70+64825C>A
Search 100 bp 5'
Search 100 bp 3'