ClinGen Allele Registry
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Canonical Allele Identifier:
CA13263883
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.35006503C>G , CM000672.2:g.35006503C>G
GRCh38
NC_000010.10:g.35295431C>G , CM000672.1:g.35295431C>G
GRCh37
NC_000010.9:g.35335437C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930817.1:n.350-250G>C
Search 100 bp 5'
Search 100 bp 3'