ClinGen Allele Registry
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Canonical Allele Identifier:
CA16060381
Community Standard Title: NC_000001.11:g.90478350A>G
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.90478350A>G , CM000663.2:g.90478350A>G
GRCh38
NC_000001.10:g.90943907A>G , CM000663.1:g.90943907A>G
GRCh37
NC_000001.9:g.90716495A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_947591.1:n.139+418T>C
XR_947591.2:n.151+418T>C
Search 100 bp 5'
Search 100 bp 3'