ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2112050538
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.94853022C= , CM000675.2:g.94853022C=
GRCh38
NC_000013.10:g.95505276C= , CM000675.1:g.95505276C=
GRCh37
NC_000013.9:g.94303277C=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110754.1:n.257-52442C=
Search 100 bp 5'
Search 100 bp 3'