ClinGen Allele Registry
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Canonical Allele Identifier:
CA1818743305
Community Standard Title: NC_000008.11:g.128180025T=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128180025T= , CM000670.2:g.128180025T=
GRCh38
NC_000008.10:g.129192271T= , CM000670.1:g.129192271T=
GRCh37
NC_000008.9:g.129261453T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928641.1:n.861-6531T=
Search 100 bp 5'
Search 100 bp 3'