Canonical Allele Identifier: PA314421
Gene: EFHC1 HGNC NCBI
ClinVar RCV:
RCV000187349
ClinVar Variation:
205392
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Arg276Gly
CA314420
NM_018100.3:c.826C>G