ClinGen Allele Registry
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Canonical Allele Identifier:
CA1309150866
Community Standard Title: NC_000002.12:g.175457761T=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.175457761T= , CM000664.2:g.175457761T=
GRCh38
NC_000002.11:g.176322489T= , CM000664.1:g.176322489T=
GRCh37
NC_000002.10:g.176030735T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923596.1:n.79+3077T=
Search 100 bp 5'
Search 100 bp 3'