ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573184729
Gene: RSPH4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1362434
ClinVar RCV Id:
RCV001932285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155136.1:p.Arg336Cys
CA3970881
NM_001161664.2:c.1006C>T