ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA13910095
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.43900381G>A , CM000675.2:g.43900381G>A
GRCh38
NC_000013.10:g.44474517G>A , CM000675.1:g.44474517G>A
GRCh37
NC_000013.9:g.43372517G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000627615.1:c.757-6499G>A
Search 100 bp 5'
Search 100 bp 3'