ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA707773569
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.65308977T>A , CM000676.2:g.65308977T>A
GRCh38
NC_000014.8:g.65775695T>A , CM000676.1:g.65775695T>A
GRCh37
NC_000014.7:g.64845448T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_943945.1:n.271+9514A>T
Search 100 bp 5'
Search 100 bp 3'