ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580308824
Gene: NKX2-5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002419126
RCV003099808
ClinVar Variation:
1761553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Gly267Arg
CA3563635
NM_004387.3:c.799G>C