ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA238772015
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.63017985A>G , CM000674.2:g.63017985A>G
GRCh38
NC_000012.11:g.63411765A>G , CM000674.1:g.63411765A>G
GRCh37
NC_000012.10:g.61698032A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_429154.2:n.27-4077A>G
Search 100 bp 5'
Search 100 bp 3'