ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA80170586
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.99448263A>C , CM000665.2:g.99448263A>C
GRCh38
NC_000003.11:g.99167107A>C , CM000665.1:g.99167107A>C
GRCh37
NC_000003.10:g.100649797A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001740463.1:n.97-23974T>G
Search 100 bp 5'
Search 100 bp 3'