ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2504176294
Gene:
Linked Data
dbSNP Id:
rs2140130935
gnomAD v3:
14-54912317-G-A
gnomAD v4:
14-54912317-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54912317G>A , CM000676.2:g.54912317G>A
GRCh38
NC_000014.8:g.55379035G>A , CM000676.1:g.55379035G>A
GRCh37
NC_000014.7:g.54448785G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'