ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA11100048
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.226155937A>G , CM000664.2:g.226155937A>G
GRCh38
NC_000002.11:g.227020653A>G , CM000664.1:g.227020653A>G
GRCh37
NC_000002.10:g.226728897A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_046102.1:n.293-8451A>G
Search 100 bp 5'
Search 100 bp 3'