ClinGen Allele Registry
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Canonical Allele Identifier:
CA1318169516
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.195007175G= , CM000664.2:g.195007175G=
GRCh38
NC_000002.11:g.195871899G= , CM000664.1:g.195871899G=
GRCh37
NC_000002.10:g.195580144G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739836.1:n.553+52260C=
Search 100 bp 5'
Search 100 bp 3'