ClinGen Allele Registry
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Canonical Allele Identifier:
CA2838447710
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.72181285T>C , CM000680.2:g.72181285T>C
GRCh38
NC_000018.9:g.69848520T>C , CM000680.1:g.69848520T>C
GRCh37
NC_000018.8:g.67999500T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_935617.1:n.179+3262A>G
Search 100 bp 5'
Search 100 bp 3'