ClinGen Allele Registry
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Canonical Allele Identifier:
CA10655811
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.2581777C>T , CM000663.2:g.2581777C>T
GRCh38
NC_000001.10:g.2513216C>T , CM000663.1:g.2513216C>T
GRCh37
NC_000001.9:g.2503076C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_121638.1:n.162+127C>T
Search 100 bp 5'
Search 100 bp 3'