ClinGen Allele Registry
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Canonical Allele Identifier:
CA2581796137
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.176127051A>C , CM000664.2:g.176127051A>C
GRCh38
NC_000002.11:g.176991779A>C , CM000664.1:g.176991779A>C
GRCh37
NC_000002.10:g.176700025A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_241351.3:n.2581T>G
Search 100 bp 5'
Search 100 bp 3'