ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA12300390
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.87942862T>C , CM000668.2:g.87942862T>C
GRCh38
NC_000006.11:g.88652580T>C , CM000668.1:g.88652580T>C
GRCh37
NC_000006.10:g.88709299T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001744246.1:n.1581T>C
Search 100 bp 5'
Search 100 bp 3'