ClinGen Allele Registry
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Canonical Allele Identifier:
PA3072144432
Gene: EFHC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060570.2:p.Arg221Pro
CA364452228
NM_018100.3:c.662G>C