ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2216867234
Gene:
Linked Data
dbSNP Id:
rs2057341897
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.31099516T>C , CM000678.2:g.31099516T>C
GRCh38
NC_000016.9:g.31110837T>C , CM000678.1:g.31110837T>C
GRCh37
NC_000016.8:g.31018338T>C
NCBI36
NG_011564.1:g.440A>G
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