ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830485693
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497040
ClinVar RCV Id:
RCV000594258
RCV000688855
RCV000725806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala2332Val
CA4925770
NM_201379.3:c.6995C>T