ClinGen Allele Registry
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Canonical Allele Identifier:
CA2762807098
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99474293T>C , CM000666.2:g.99474293T>C
GRCh38
NC_000004.11:g.100395450T>C , CM000666.1:g.100395450T>C
GRCh37
NC_000004.10:g.100614473T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000506494.1:n.243-2431A>G
Search 100 bp 5'
Search 100 bp 3'