ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120056
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9008
ClinVar RCV Id:
RCV000009573
RCV000009572
RCV000023017
RCV000037968
RCV000023018
RCV000023019
RCV000030339
RCV000987632
RCV000619696
RCV003311655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Arg25Cys
CA120055
NM_004387.3:c.73C>T