ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2838311300
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.65558081A>C , CM000664.2:g.65558081A>C
GRCh38
NC_000002.11:g.65785215A>C , CM000664.1:g.65785215A>C
GRCh37
NC_000002.10:g.65638719A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940193.1:n.128-70082A>C
Search 100 bp 5'
Search 100 bp 3'