ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830481008
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000595617
RCV000648631
ClinVar Variation:
501829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Asp3821Asn
CA4924334
NM_201378.4:c.11461G>A