ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830163702
Gene: RSPH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_543136.1:p.Gly126Val
CA410365957
NM_080860.4:c.377G>T