ClinGen Allele Registry
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Canonical Allele Identifier:
CA1751305326
Community Standard Title: NC_000007.14:g.148560956G=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.148560956G= , CM000669.2:g.148560956G=
GRCh38
NC_000007.13:g.148258048G= , CM000669.1:g.148258048G=
GRCh37
NC_000007.12:g.147888981G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928099.1:n.300+7144C=
XR_928100.1:n.433+7144C=
Search 100 bp 5'
Search 100 bp 3'