ClinGen Allele Registry
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Canonical Allele Identifier:
CA1818149994
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999824A= , CM000670.2:g.126999824A=
GRCh38
NC_000008.10:g.128012069A= , CM000670.1:g.128012069A=
GRCh37
NC_000008.9:g.128081251A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1301-6731A=
Search 100 bp 5'
Search 100 bp 3'