ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1504648234
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.153943598T= , CM000666.2:g.153943598T=
GRCh38
NC_000004.11:g.154864750T= , CM000666.1:g.154864750T=
GRCh37
NC_000004.10:g.155084200T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741892.1:n.1348-5223T=
Search 100 bp 5'
Search 100 bp 3'