ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2439632097
Gene:
Linked Data - NCBI & NCI
dbSNP:
5912838
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.79241621A>G , CM000685.2:g.79241621A>G
GRCh38
NC_000023.10:g.78497118A>G , CM000685.1:g.78497118A>G
GRCh37
NC_000023.9:g.78383774A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001755902.2:n.1112+4288A>G
Search 100 bp 5'
Search 100 bp 3'