ClinGen Allele Registry
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Canonical Allele Identifier:
CA2470689107
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14941891C= , CM000686.2:g.14941891C=
GRCh38
NC_000024.9:g.17053771C= , CM000686.1:g.17053771C=
GRCh37
NC_000024.8:g.15563165C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000427212.2:n.76+70C=
Search 100 bp 5'
Search 100 bp 3'