ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1438624490
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.11501912G= , CM000666.2:g.11501912G=
GRCh38
NC_000004.11:g.11503536G= , CM000666.1:g.11503536G=
GRCh37
NC_000004.10:g.11112634G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741361.1:n.950+19066G=
Search 100 bp 5'
Search 100 bp 3'