ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1462694342
Gene:
Linked Data
dbSNP Id:
rs1756231188
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.62558373A>C , CM000666.2:g.62558373A>C
GRCh38
NC_000004.11:g.63424091A>C , CM000666.1:g.63424091A>C
GRCh37
NC_000004.10:g.63106686A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938814.1:n.161-5471A>C
Search 100 bp 5'
Search 100 bp 3'