ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2470712348
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.15286718T= , CM000686.2:g.15286718T=
GRCh38
NC_000024.9:g.17398598T= , CM000686.1:g.17398598T=
GRCh37
NC_000024.8:g.15907992T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001756089.1:n.310-39540A=
Search 100 bp 5'
Search 100 bp 3'