ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1480021918
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99474229T= , CM000666.2:g.99474229T=
GRCh38
NC_000004.11:g.100395386T= , CM000666.1:g.100395386T=
GRCh37
NC_000004.10:g.100614409T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000506494.1:n.243-2367A=
Search 100 bp 5'
Search 100 bp 3'