ClinGen Allele Registry
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Canonical Allele Identifier:
CA1287750279
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.129276439C= , CM000664.2:g.129276439C=
GRCh38
NC_000002.11:g.130034012C= , CM000664.1:g.130034012C=
GRCh37
NC_000002.10:g.129750482C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923320.1:n.1133-12511C=
Search 100 bp 5'
Search 100 bp 3'