ClinGen Allele Registry
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Canonical Allele Identifier:
CA205538142
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.30230903C>T , CM000672.2:g.30230903C>T
GRCh38
NC_000010.10:g.30519832C>T , CM000672.1:g.30519832C>T
GRCh37
NC_000010.9:g.30559838C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_120653.1:n.269-14C>T
Search 100 bp 5'
Search 100 bp 3'