ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA101609484
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99265219A>G , CM000666.2:g.99265219A>G
GRCh38
NC_000004.11:g.100186376A>G , CM000666.1:g.100186376A>G
GRCh37
NC_000004.10:g.100405399A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_037884.1:n.3790-21576A>G
Search 100 bp 5'
Search 100 bp 3'