ClinGen Allele Registry
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Canonical Allele Identifier:
CA2838385222
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.90770639A>G , CM000668.2:g.90770639A>G
GRCh38
NC_000006.11:g.91480357A>G , CM000668.1:g.91480357A>G
GRCh37
NC_000006.10:g.91537078A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001744259.1:n.1243+109137A>G
Search 100 bp 5'
Search 100 bp 3'