ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2580594513
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.45922864T>C , CM000669.2:g.45922864T>C
GRCh38
NC_000007.13:g.45962463T>C , CM000669.1:g.45962463T>C
GRCh37
NC_000007.12:g.45928988T>C
NCBI36
NG_011508.1:g.3409A>G
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