ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580337162
Gene: ENPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2186382
ClinVar RCV Id:
RCV002606598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006199.2:p.Ala46Ser
CA365661933
NM_006208.3:c.136G>T