ClinGen Allele Registry
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Canonical Allele Identifier:
CA473956182
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.43064544T>C , CM000673.2:g.43064544T>C
GRCh38
NC_000011.9:g.43086094T>C , CM000673.1:g.43086094T>C
GRCh37
NC_000011.8:g.43042670T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000603543.1:n.541A>G
Search 100 bp 5'
Search 100 bp 3'