ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2143075595
Gene:
Linked Data - NCBI & NCI
dbSNP:
11847263
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.65308977T>C , CM000676.2:g.65308977T>C
GRCh38
NC_000014.8:g.65775695T>C , CM000676.1:g.65775695T>C
GRCh37
NC_000014.7:g.64845448T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_943945.1:n.271+9514A>G
Search 100 bp 5'
Search 100 bp 3'