ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA220467174
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.35071523A>G , CM000673.2:g.35071523A>G
GRCh38
NC_000011.9:g.35093070A>G , CM000673.1:g.35093070A>G
GRCh37
NC_000011.8:g.35049646A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001748182.1:n.41+2394T>C
Search 100 bp 5'
Search 100 bp 3'