ClinGen Allele Registry
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Canonical Allele Identifier:
CA2844616537
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.221034724C>G , CM000664.2:g.221034724C>G
GRCh38
NC_000002.11:g.221899444C>G , CM000664.1:g.221899444C>G
GRCh37
NC_000002.10:g.221607688C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739897.1:n.187+1546G>C
Search 100 bp 5'
Search 100 bp 3'