ClinGen Allele Registry
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Canonical Allele Identifier:
CA2780974175
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191191A>T , CM000670.2:g.79191191A>T
GRCh38
NC_000008.10:g.80103426A>T , CM000670.1:g.80103426A>T
GRCh37
NC_000008.9:g.80265981A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745720.1:n.105+820A>T
Search 100 bp 5'
Search 100 bp 3'