ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2580600303
Gene:
Linked Data - NCBI & NCI
dbSNP:
2187331
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.68678956C>G , CM000673.2:g.68678956C>G
GRCh38
NC_000011.9:g.68446424C>G , CM000673.1:g.68446424C>G
GRCh37
NC_000011.8:g.68203000C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001748281.1:n.231-1966G>C
Search 100 bp 5'
Search 100 bp 3'