ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057501273
Gene: NKX2-5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005128162
ClinVar Variation:
3650744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Pro87Thr
CA362163379
NM_004387.3:c.259C>A