ClinGen Allele Registry
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Canonical Allele Identifier:
CA2353246796
Community Standard Title: NC_000020.11:g.17844499T>G
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.17844499T>G , CM000682.2:g.17844499T>G
GRCh38
NC_000020.10:g.17825143T>G , CM000682.1:g.17825143T>G
GRCh37
NC_000020.9:g.17773143T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754511.1:n.294+5666A>C
Search 100 bp 5'
Search 100 bp 3'