ClinGen Allele Registry
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Canonical Allele Identifier:
CA561285458
Community Standard Title: NC_000005.10:g.96434194G>A
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.96434194G>A , CM000667.2:g.96434194G>A
GRCh38
NC_000005.9:g.95769898G>A , CM000667.1:g.95769898G>A
GRCh37
NC_000005.8:g.95795654G>A
NCBI36
NG_021161.1:g.4088C>T
Transcript Alleles
HGVS
Amino-acid Change
NR_130776.1:n.354+54542G>A
Search 100 bp 5'
Search 100 bp 3'