ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279018
Gene: NR5A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000199384
ClinVar Variation:
216976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004950.2:p.Tyr404Asp
CA279017
NM_004959.5:c.1210T>G