ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830486542
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
507416
ClinVar RCV Id:
RCV000693971
RCV001722597
RCV004024912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ser3017Asn
CA4925066
NM_201379.3:c.9050G>A