ClinGen Allele Registry
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Canonical Allele Identifier:
CA1601415190
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.172771552G= , CM000667.2:g.172771552G=
GRCh38
NC_000005.9:g.172198555G= , CM000667.1:g.172198555G=
GRCh37
NC_000005.8:g.172131161G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_941232.1:n.144G=
XR_941233.1:n.144G=
Search 100 bp 5'
Search 100 bp 3'