ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1525299984
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.6767199T= , CM000667.2:g.6767199T=
GRCh38
NC_000005.9:g.6767312T= , CM000667.1:g.6767312T=
GRCh37
NC_000005.8:g.6820312T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_925739.1:n.72+1218T=
XR_925739.2:n.395+1218T=
Search 100 bp 5'
Search 100 bp 3'