ClinGen Allele Registry
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Canonical Allele Identifier:
CA1525347231
Community Standard Title: NC_000005.10:g.6852487C=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.6852487C= , CM000667.2:g.6852487C=
GRCh38
NC_000005.9:g.6852600C= , CM000667.1:g.6852600C=
GRCh37
NC_000005.8:g.6905600C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742496.1:n.284+5483C=
Search 100 bp 5'
Search 100 bp 3'