ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499269497
Gene: NR5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1016720
ClinVar RCV Id:
RCV001315764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004950.2:p.Pro134Ser
CA199729071
NM_004959.5:c.400C>T