ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2500359208
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.129077879T>C , CM000669.2:g.129077879T>C
GRCh38
NC_000007.13:g.128717933T>C , CM000669.1:g.128717933T>C
GRCh37
NC_000007.12:g.128505169T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'