ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2782695719
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.3128269T>C , CM000671.2:g.3128269T>C
GRCh38
NC_000009.11:g.3128269T>C , CM000671.1:g.3128269T>C
GRCh37
NC_000009.10:g.3118269T>C
NCBI36
Search 100 bp 5'
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