ClinGen Allele Registry
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Canonical Allele Identifier:
CA7329596
Community Standard Title: NC_000014.9:g.94612340G>C
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.94612340G>C , CM000676.2:g.94612340G>C
GRCh38
NC_000014.8:g.95078677G>C , CM000676.1:g.95078677G>C
GRCh37
NC_000014.7:g.94148430G>C
NCBI36
NG_012879.1:g.4964G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000553947.1:c.848G>C
Search 100 bp 5'
Search 100 bp 3'