ClinGen Allele Registry
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Canonical Allele Identifier:
CA1889344501
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.8697531G= , CM000672.2:g.8697531G=
GRCh38
NC_000010.10:g.8739494G= , CM000672.1:g.8739494G=
GRCh37
NC_000010.9:g.8779500G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930641.1:n.33-27730C=
Search 100 bp 5'
Search 100 bp 3'