ClinGen Allele Registry
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Canonical Allele Identifier:
CA1697889737
Community Standard Title: NC_000007.14:g.30897563T=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.30897563T= , CM000669.2:g.30897563T=
GRCh38
NC_000007.13:g.30937178T= , CM000669.1:g.30937178T=
GRCh37
NC_000007.12:g.30903703T=
NCBI36
NG_007475.2:g.49170T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000509504.2:c.622-14430T=
Search 100 bp 5'
Search 100 bp 3'