ClinGen Allele Registry
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Canonical Allele Identifier:
CA14702828
Community Standard Title: NC_000019.10:g.40287019C>G
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40287019C>G , CM000681.2:g.40287019C>G
GRCh38
NC_000019.9:g.40792926C>G , CM000681.1:g.40792926C>G
GRCh37
NC_000019.8:g.45484766C>G
NCBI36
NG_012038.2:g.3340G>C
Transcript Alleles
HGVS
Amino-acid Change
XR_935967.1:n.169+420C>G
Search 100 bp 5'
Search 100 bp 3'