ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA333030190
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.107001537C>T , CM000685.2:g.107001537C>T
GRCh38
NC_000023.10:g.106244767C>T , CM000685.1:g.106244767C>T
GRCh37
NC_000023.9:g.106131423C>T
NCBI36
NG_016392.1:g.3708G>A
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