ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA963342869
Gene:
Linked Data
dbSNP Id:
rs2040649735
gnomAD v3:
14-54912353-T-C
gnomAD v4:
14-54912353-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54912353T>C , CM000676.2:g.54912353T>C
GRCh38
NC_000014.8:g.55379071T>C , CM000676.1:g.55379071T>C
GRCh37
NC_000014.7:g.54448821T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'