ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2469958308
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7848221A= , CM000686.2:g.7848221A=
GRCh38
NC_000024.9:g.7716262A= , CM000686.1:g.7716262A=
GRCh37
NC_000024.8:g.7776262A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938644.1:n.69+10469T=
XR_938644.2:n.69+10469T=
Search 100 bp 5'
Search 100 bp 3'