ClinGen Allele Registry
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Canonical Allele Identifier:
CA1318169461
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.195007059C= , CM000664.2:g.195007059C=
GRCh38
NC_000002.11:g.195871783C= , CM000664.1:g.195871783C=
GRCh37
NC_000002.10:g.195580028C=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001739836.1:n.553+52376G=
Search 100 bp 5'
Search 100 bp 3'