Canonical Allele Identifier: PA1139712736
Gene: NKX2-5 HGNC NCBI
ClinVar RCV:
RCV001037090
ClinVar Variation:
836056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004378.1:p.Ala284Val
CA362161042
NM_004387.3:c.851C>T