ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830069866
Gene: RSPH3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000689518
ClinVar Variation:
568995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114130.4:p.Ala264Val
CA4075810
NM_031924.8:c.791C>T