ClinGen Allele Registry
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Canonical Allele Identifier:
CA327796353
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25835497T>C , CM000685.2:g.25835497T>C
GRCh38
NC_000023.10:g.25853614T>C , CM000685.1:g.25853614T>C
GRCh37
NC_000023.9:g.25763535T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001755821.2:n.470+16215T>C
Search 100 bp 5'
Search 100 bp 3'