ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915987945
Gene: ENTPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498850
ClinVar RCV Id:
RCV000595576
RCV001484653
RCV001848982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157650.1:p.Ile505Met
CA5621667
NM_001164178.1:c.1515C>G