ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2250341639
Gene:
Linked Data
dbSNP Id:
rs2087749828
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.16972126A>C , CM000679.2:g.16972126A>C
GRCh38
NC_000017.10:g.16875440A>C , CM000679.1:g.16875440A>C
GRCh37
NC_000017.9:g.16816165A>C
NCBI36
NG_007281.1:g.4963T>G , LRG_120:g.4963T>G
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