ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2216867238
Gene:
Linked Data
dbSNP Id:
rs2057341920
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.31099532C>T , CM000678.2:g.31099532C>T
GRCh38
NC_000016.9:g.31110853C>T , CM000678.1:g.31110853C>T
GRCh37
NC_000016.8:g.31018354C>T
NCBI36
NG_011564.1:g.424G>A
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