ClinGen Allele Registry
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Canonical Allele Identifier:
CA261374886
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.52417637T>C , CM000676.2:g.52417637T>C
GRCh38
NC_000014.8:g.52884355T>C , CM000676.1:g.52884355T>C
GRCh37
NC_000014.7:g.51954105T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_943866.1:n.3066A>G
Search 100 bp 5'
Search 100 bp 3'