ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573236134
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002018435
RCV003336500
RCV004046773
ClinVar Variation:
1513563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Ala255Thr
CA3563645
NM_004387.3:c.763G>A