ClinGen Allele Registry
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Canonical Allele Identifier:
CA2532010379
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69147028T>G , CM000669.2:g.69147028T>G
GRCh38
NC_000007.13:g.68612015T>G , CM000669.1:g.68612015T>G
GRCh37
NC_000007.12:g.68249951T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927647.1:n.88-902A>C
Search 100 bp 5'
Search 100 bp 3'