ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340078
Gene: SRD5A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3344
ClinVar RCV Id:
RCV000003508
RCV001270015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000339.2:p.Ala228Thr
CA340077
NM_000348.4:c.682G>A