ClinGen Allele Registry
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Canonical Allele Identifier:
CA2800209035
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.94853043T>C , CM000675.2:g.94853043T>C
GRCh38
NC_000013.10:g.95505297T>C , CM000675.1:g.95505297T>C
GRCh37
NC_000013.9:g.94303298T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110754.1:n.257-52421T>C
Search 100 bp 5'
Search 100 bp 3'