ClinGen Allele Registry
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Canonical Allele Identifier:
CA1233161533
Community Standard Title: NC_000002.12:g.638144G>C
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.638144G>C , CM000664.2:g.638144G>C
GRCh38
NC_000002.11:g.638144G>C , CM000664.1:g.638144G>C
GRCh37
NC_000002.10:g.628144G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_011510438.1:c.*572+760G>C
XP_011508740.1:n.*572+760G>C
Search 100 bp 5'
Search 100 bp 3'