ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1356887075
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.34921177T= , CM000665.2:g.34921177T=
GRCh38
NC_000003.11:g.34962669T= , CM000665.1:g.34962669T=
GRCh37
NC_000003.10:g.34937673T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110817.1:n.207-41711A=
Search 100 bp 5'
Search 100 bp 3'