ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1898741339
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.29075773T= , CM000672.2:g.29075773T=
GRCh38
NC_000010.10:g.29364702T= , CM000672.1:g.29364702T=
GRCh37
NC_000010.9:g.29404708T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001747284.1:n.127-3719T=
Search 100 bp 5'
Search 100 bp 3'