ClinGen Allele Registry
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Canonical Allele Identifier:
CA853156128
Community Standard Title: NC_000008.11:g.53206654G>T
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.53206654G>T , CM000670.2:g.53206654G>T
GRCh38
NC_000008.10:g.54119214G>T , CM000670.1:g.54119214G>T
GRCh37
NC_000008.9:g.54281767G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928877.1:n.434-9645G>T
Search 100 bp 5'
Search 100 bp 3'