ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1215982341
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.192800603G= , CM000663.2:g.192800603G=
GRCh38
NC_000001.10:g.192769733G= , CM000663.1:g.192769733G=
GRCh37
NC_000001.9:g.191036356G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000429211.2:n.33G=
Search 100 bp 5'
Search 100 bp 3'