ClinGen Allele Registry
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Canonical Allele Identifier:
CA660612330
Community Standard Title: NC_000010.11:g.119206827T>G
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.119206827T>G , CM000672.2:g.119206827T>G
GRCh38
NC_000010.10:g.120966339T>G , CM000672.1:g.120966339T>G
GRCh37
NC_000010.9:g.120956329T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_011540456.1:c.521A>C
XP_011538758.1:p.Gln174Pro
Search 100 bp 5'
Search 100 bp 3'