ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830496189
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000546115
RCV001561642
ClinVar Variation:
471608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Ala1836Val
CA4926342
NM_201382.4:c.5507C>T