ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA13978848
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.63544119A>G , CM000676.2:g.63544119A>G
GRCh38
NC_000014.8:g.64010837A>G , CM000676.1:g.64010837A>G
GRCh37
NC_000014.7:g.63080590A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_158218.1:n.1336A>G
Search 100 bp 5'
Search 100 bp 3'