ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2716732254
Gene:
Linked Data
dbSNP Id:
rs1804831217
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.30728156C>T , CM000670.2:g.30728156C>T
GRCh38
NC_000008.10:g.30585673C>T , CM000670.1:g.30585673C>T
GRCh37
NC_000008.9:g.30705215C>T
NCBI36
NG_027719.1:g.4814G>A
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