ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314467
Gene: EFHC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205416
ClinVar RCV Id:
RCV000187374
RCV003927737
RCV003765188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060570.2:p.Ile619Ser
CA314466
NM_018100.3:c.1856T>G