ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580344382
Gene: SEC63
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2083965
ClinVar RCV Id:
RCV003009316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009145.1:p.Ile733Val
CA3947132
NM_007214.5:c.2197A>G