ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830502179
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000693971
RCV001722597
RCV004024912
ClinVar Variation:
507416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ser3043Asn
CA4925066
NM_201383.3:c.9128G>A