ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1332325154
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.226155937A= , CM000664.2:g.226155937A=
GRCh38
NC_000002.11:g.227020653A= , CM000664.1:g.227020653A=
GRCh37
NC_000002.10:g.226728897A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_046102.1:n.293-8451A=
Search 100 bp 5'
Search 100 bp 3'