ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246514
Gene: SGCA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000014.1:p.Asp234Asn
CA246512
NM_000023.3:c.700G>A