ClinGen Allele Registry
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Canonical Allele Identifier:
CA2838253675
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.87129010G>T , CM000667.2:g.87129010G>T
GRCh38
NC_000005.9:g.86424827G>T , CM000667.1:g.86424827G>T
GRCh37
NC_000005.8:g.86460583G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_105018.1:n.48-8444G>T
Search 100 bp 5'
Search 100 bp 3'