ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2224391443
Gene:
Linked Data
dbSNP Id:
rs2056004192
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56960205G>T , CM000678.2:g.56960205G>T
GRCh38
NC_000016.9:g.56994117G>T , CM000678.1:g.56994117G>T
GRCh37
NC_000016.8:g.55551618G>T
NCBI36
NG_008952.1:g.3283G>T
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