Canonical Allele Identifier: PA2499284412
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1055947
ClinVar RCV Id: RCV003771107
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Pro525Leu
CA364458142
NM_018100.3:c.1574C>T