ClinGen Allele Registry
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Canonical Allele Identifier:
CA1609069930
Community Standard Title: NC_000006.12:g.8525127T>A
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.8525127T>A , CM000668.2:g.8525127T>A
GRCh38
NC_000006.11:g.8525360T>A , CM000668.1:g.8525360T>A
GRCh37
NC_000006.10:g.8470359T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_038979.1:n.626-33458T>A
NR_038980.1:n.649-33458T>A
Search 100 bp 5'
Search 100 bp 3'