ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2674977001
Gene:
Linked Data
gnomAD v4:
5-119452350-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.119452350C>A , CM000667.2:g.119452350C>A
GRCh38
NC_000005.9:g.118788045C>A , CM000667.1:g.118788045C>A
GRCh37
NC_000005.8:g.118815944C>A
NCBI36
NG_008182.1:g.4898C>A
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