ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA838961175
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.46202985T>C , CM000669.2:g.46202985T>C
GRCh38
NC_000007.13:g.46242583T>C , CM000669.1:g.46242583T>C
GRCh37
NC_000007.12:g.46209108T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'