Canonical Allele Identifier: PA2826064018
Gene: EFHC1 HGNC NCBI
ClinVar RCV:
RCV000187349
ClinVar Variation:
205392
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Arg257Gly
CA314420
NM_001172420.2:c.769C>G