ClinGen Allele Registry
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Canonical Allele Identifier:
CA2581562575
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31440051T>G , CM000668.2:g.31440051T>G
GRCh38
NC_000006.11:g.31407828T>G , CM000668.1:g.31407828T>G
GRCh37
NC_000006.10:g.31515807T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.56A>C
Search 100 bp 5'
Search 100 bp 3'