ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2002565221
Gene:
Linked Data - NCBI & NCI
dbSNP:
490592
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116427650A>G , CM000673.2:g.116427650A>G
GRCh38
NC_000011.9:g.116298367A>G , CM000673.1:g.116298367A>G
GRCh37
NC_000011.8:g.115803577A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001748403.1:n.349+46227T>C
Search 100 bp 5'
Search 100 bp 3'