ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658818169
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519139
ClinVar RCV Id:
RCV000617167
RCV003619712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Gly296Asp
CA3563611
NM_004387.3:c.887G>A