ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA11912966
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.167343098C>T , CM000666.2:g.167343098C>T
GRCh38
NC_000004.11:g.168264249C>T , CM000666.1:g.168264249C>T
GRCh37
NC_000004.10:g.168500824C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939421.1:n.217-34311G>A
Search 100 bp 5'
Search 100 bp 3'