ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580474623
Gene: RSPH6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2246773
ClinVar RCV Id:
RCV004106444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_110412.1:p.Glu505Val
CA406404856
NM_030785.4:c.1514A>T