ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280503
Gene: MEFV
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000083737
RCV000487146
RCV002262640
RCV003460764
ClinVar Variation:
97485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Ile692del
CA280501
NM_000243.3:c.2076_2078del