ClinGen Allele Registry
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Canonical Allele Identifier:
CA1610684721
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.11943358C= , CM000668.2:g.11943358C=
GRCh38
NC_000006.11:g.11943591C= , CM000668.1:g.11943591C=
GRCh37
NC_000006.10:g.12051577C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001743976.1:n.348-8177C=
Search 100 bp 5'
Search 100 bp 3'