ClinGen Allele Registry
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Canonical Allele Identifier:
CA2759813369
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.187931663G>T , CM000665.2:g.187931663G>T
GRCh38
NC_000003.11:g.187649451G>T , CM000665.1:g.187649451G>T
GRCh37
NC_000003.10:g.189132145G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924814.1:n.1251C>A
Search 100 bp 5'
Search 100 bp 3'