ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2180493570
Gene:
Linked Data
dbSNP Id:
rs1899940829
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.58750088T>C , CM000677.2:g.58750088T>C
GRCh38
NC_000015.9:g.59042287T>C , CM000677.1:g.59042287T>C
GRCh37
NC_000015.8:g.56829579T>C
NCBI36
NG_033876.1:g.4891A>G
NG_033876.2:g.4620A>G
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