Canonical Allele Identifier: PA1139712724
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 837477
ClinVar RCV Id: RCV001038821 RCV002409381 RCV002489557
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004378.1:p.Ala281Glu
CA362161062
NM_004387.3:c.842C>A