ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825301576
Gene: RSPH4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2414164
ClinVar RCV Id:
RCV003106497
RCV003314760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001010892.1:p.Val315Ile
CA365402993
NM_001010892.3:c.943G>A