Canonical Allele Identifier: PA2580308754
Gene: NKX2-5 HGNC NCBI
ClinVar RCV:
RCV003115647
ClinVar Variation:
2419762
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004378.1:p.Ala165Gly
CA362161749
NM_004387.3:c.494C>G