ClinGen Allele Registry
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Canonical Allele Identifier:
CA1079029675
Community Standard Title: NC_000005.10:g.96434194G>T
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.96434194G>T , CM000667.2:g.96434194G>T
GRCh38
NC_000005.9:g.95769898G>T , CM000667.1:g.95769898G>T
GRCh37
NC_000005.8:g.95795654G>T
NCBI36
NG_021161.1:g.4088C>A
Transcript Alleles
HGVS
Amino-acid Change
NR_130776.1:n.354+54542G>T
Search 100 bp 5'
Search 100 bp 3'