ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2112050750
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.94853131T= , CM000675.2:g.94853131T=
GRCh38
NC_000013.10:g.95505385T= , CM000675.1:g.95505385T=
GRCh37
NC_000013.9:g.94303386T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110754.1:n.257-52333T=
Search 100 bp 5'
Search 100 bp 3'