ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1333019282
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.227644742C= , CM000664.2:g.227644742C=
GRCh38
NC_000002.11:g.228509458C= , CM000664.1:g.228509458C=
GRCh37
NC_000002.10:g.228217702C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000509872.1:n.805-2466G=
Search 100 bp 5'
Search 100 bp 3'