ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2493232101
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.20485726G= , CM000664.2:g.20485726G=
GRCh38
NC_000002.11:g.20685487G= , CM000664.1:g.20685487G=
GRCh37
NC_000002.10:g.20548968G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_157978.1:n.530+3012C=
Search 100 bp 5'
Search 100 bp 3'