ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1320446144
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200033170G= , CM000664.2:g.200033170G=
GRCh38
NC_000002.11:g.200897893G= , CM000664.1:g.200897893G=
GRCh37
NC_000002.10:g.200606138G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923778.1:n.178-22274C=
Search 100 bp 5'
Search 100 bp 3'