ClinGen Allele Registry
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Canonical Allele Identifier:
PA123288
Gene: ENPP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000014558
RCV000033192
RCV000178259
RCV000265863
RCV000355961
RCV001255136
RCV001515718
RCV001659696
RCV001843453
RCV002226648
RCV004541005
ClinVar Variation:
13589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006199.2:p.Lys173Gln
CA123287
NM_006208.3:c.517A>C