ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645381028
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234353
ClinVar RCV Id:
RCV000215134
RCV002478819
RCV003126620
RCV003126619
RCV003126621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Pro147Ala
CA10577524
NM_000243.3:c.439C>G