ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1804794388
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.97269756G= , CM000670.2:g.97269756G=
GRCh38
NC_000008.10:g.98281984G= , CM000670.1:g.98281984G=
GRCh37
NC_000008.9:g.98351160G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125390.1:n.471+149314C=
Search 100 bp 5'
Search 100 bp 3'