ClinGen Allele Registry
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Canonical Allele Identifier:
CA1793146747
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.72194681A= , CM000670.2:g.72194681A=
GRCh38
NC_000008.10:g.73106916A= , CM000670.1:g.73106916A=
GRCh37
NC_000008.9:g.73269470A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_929040.1:n.472A=
XR_929040.2:n.1097A=
Search 100 bp 5'
Search 100 bp 3'