ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2471091630
Community Standard Title: NC_000024.10:g.21318084A=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.21318084A= , CM000686.2:g.21318084A=
GRCh38
NC_000024.9:g.23479970A= , CM000686.1:g.23479970A=
GRCh37
NC_000024.8:g.21889358A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000437359.1:n.752+188A=
Search 100 bp 5'
Search 100 bp 3'