ClinGen Allele Registry
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Canonical Allele Identifier:
PA098404
Gene: NR5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242792
ClinVar RCV Id:
RCV001582796
RCV002247684
RCV003105834
RCV003967675
RCV003454713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004950.2:p.Gly123Ala
CA034488
NM_004959.5:c.368G>C