ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1439485163
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.13100727G= , CM000666.2:g.13100727G=
GRCh38
NC_000004.11:g.13102351G= , CM000666.1:g.13102351G=
GRCh37
NC_000004.10:g.12711449G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_925410.1:n.456+45805C=
Search 100 bp 5'
Search 100 bp 3'