ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818143
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000617877
RCV000808237
ClinVar Variation:
519016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Arg132Pro
CA3563706
NM_004387.3:c.395G>C