ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2729174254
Gene:
Linked Data
dbSNP Id:
rs2139391163
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.20536709C>T , CM000676.2:g.20536709C>T
GRCh38
NC_000014.8:g.21004868C>T , CM000676.1:g.21004868C>T
GRCh37
NC_000014.7:g.20074708C>T
NCBI36
Search 100 bp 5'
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