ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830498990
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288999
ClinVar RCV Id:
RCV000402032
RCV000726265
RCV001039102
RCV003165766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Thr4491Ala
CA4923795
NM_201382.4:c.13471A>G