ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499284385
Gene: EFHC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060570.2:p.Ser130Gly
CA364457864
NM_018100.3:c.388A>G