ClinGen Allele Registry
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Canonical Allele Identifier:
CA249516752
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.43897741A>G , CM000675.2:g.43897741A>G
GRCh38
NC_000013.10:g.44471877A>G , CM000675.1:g.44471877A>G
GRCh37
NC_000013.9:g.43369877A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000627615.1:c.756+6171A>G
Search 100 bp 5'
Search 100 bp 3'