ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA117611
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5575
ClinVar RCV Id:
RCV000005917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054831.2:p.Thr914Pro
CA117610
NM_014112.4:c.2740A>C