ClinGen Allele Registry
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Canonical Allele Identifier:
CA1215982340
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.192800601C= , CM000663.2:g.192800601C=
GRCh38
NC_000001.10:g.192769731C= , CM000663.1:g.192769731C=
GRCh37
NC_000001.9:g.191036354C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000429211.2:n.31C=
Search 100 bp 5'
Search 100 bp 3'