ClinGen Allele Registry
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Canonical Allele Identifier:
CA1591204645
Community Standard Title: NC_000005.10:g.151020073T>G
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.151020073T>G , CM000667.2:g.151020073T>G
GRCh38
NC_000005.9:g.150399634T>G , CM000667.1:g.150399634T>G
GRCh37
NC_000005.8:g.150379827T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_944410.1:n.411A>C
XR_944410.2:n.257A>C
Search 100 bp 5'
Search 100 bp 3'