ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1698033032
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.31115733T= , CM000669.2:g.31115733T=
GRCh38
NC_000007.13:g.31155347T= , CM000669.1:g.31155347T=
GRCh37
NC_000007.12:g.31121872T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002956556.1:n.8284A=
Search 100 bp 5'
Search 100 bp 3'