ClinGen Allele Registry
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Canonical Allele Identifier:
CA2748546949
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.248333537C>T , CM000663.2:g.248333537C>T
GRCh38
NC_000001.10:g.248496839C>T , CM000663.1:g.248496839C>T
GRCh37
NC_000001.9:g.246563462C>T
NCBI36
Search 100 bp 5'
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