ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573235989
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1495566
ClinVar RCV Id:
RCV001991449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Pro67Leu
CA362163493
NM_004387.3:c.200C>T