ClinGen Allele Registry
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Canonical Allele Identifier:
CA1665449784
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.134398889T= , CM000668.2:g.134398889T=
GRCh38
NC_000006.11:g.134720027T= , CM000668.1:g.134720027T=
GRCh37
NC_000006.10:g.134761720T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_428023.2:n.23+160T=
Search 100 bp 5'
Search 100 bp 3'