ClinGen Allele Registry
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Canonical Allele Identifier:
CA460008420
Community Standard Title: NC_000008.11:g.24912339A>C
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.24912339A>C , CM000670.2:g.24912339A>C
GRCh38
NC_000008.10:g.24769852A>C , CM000670.1:g.24769852A>C
GRCh37
NC_000008.9:g.24825757A>C
NCBI36
NG_008388.1:g.3579A>C
Transcript Alleles
HGVS
Amino-acid Change
XR_949590.1:n.194+8445T>G
Search 100 bp 5'
Search 100 bp 3'