ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2470713731
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.15311440C= , CM000686.2:g.15311440C=
GRCh38
NC_000024.9:g.17423320C= , CM000686.1:g.17423320C=
GRCh37
NC_000024.8:g.15932714C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001756089.1:n.309+37229G=
Search 100 bp 5'
Search 100 bp 3'