ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580566544
Gene: SP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1712318
ClinVar RCV Id:
RCV003329443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954871.1:p.Ala273Lys
CA2573332356
NM_199262.3:c.817_818delinsAA