ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828286145
Gene: CYP21A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
596309
ClinVar RCV Id:
RCV000732097
RCV000826138
RCV003975283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355073.1:p.Pro348Ser
CA3732730
NM_001368144.1:c.1042C>T