ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA201929
Gene: ENPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13586
ClinVar RCV Id:
RCV000014555
RCV000176409
RCV000394923
RCV001512633
RCV002226647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006199.2:p.Arg774Cys
CA201928
NM_006208.3:c.2320C>T