ClinGen Allele Registry
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Canonical Allele Identifier:
CA12983544
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.23557229T>G , CM000671.2:g.23557229T>G
GRCh38
NC_000009.11:g.23557227T>G , CM000671.1:g.23557227T>G
GRCh37
NC_000009.10:g.23547227T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_121602.1:n.1847-2612A>C
Search 100 bp 5'
Search 100 bp 3'