ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829342386
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_001767.3:p.Ile493Met
CA5621667
NM_001776.6:c.1479C>G