ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2087970376
Community Standard Title: NC_000013.11:g.43900381G=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.43900381G= , CM000675.2:g.43900381G=
GRCh38
NC_000013.10:g.44474517G= , CM000675.1:g.44474517G=
GRCh37
NC_000013.9:g.43372517G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000627615.1:c.757-6499G=
Search 100 bp 5'
Search 100 bp 3'