ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1392628856
Gene:
Linked Data
dbSNP Id:
rs989647897
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.109743539G>C , CM000665.2:g.109743539G>C
GRCh38
NC_000003.11:g.109462386G>C , CM000665.1:g.109462386G>C
GRCh37
NC_000003.10:g.110945076G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924325.1:n.142+63344G>C
Search 100 bp 5'
Search 100 bp 3'