ClinGen Allele Registry
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Canonical Allele Identifier:
CA2170931649
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.38614848C= , CM000677.2:g.38614848C=
GRCh38
NC_000015.9:g.38907049C= , CM000677.1:g.38907049C=
GRCh37
NC_000015.8:g.36694341C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001751736.1:n.281+2393C=
Search 100 bp 5'
Search 100 bp 3'