Canonical Allele Identifier: PA247781
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198888
ClinVar RCV Id: RCV000724108 RCV003765104
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Arg436Cys
CA247780
NM_018100.3:c.1306C>T