ClinGen Allele Registry
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Canonical Allele Identifier:
CA331697464
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.79241621A>C , CM000685.2:g.79241621A>C
GRCh38
NC_000023.10:g.78497118A>C , CM000685.1:g.78497118A>C
GRCh37
NC_000023.9:g.78383774A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001755902.2:n.1112+4288A>C
Search 100 bp 5'
Search 100 bp 3'