ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA150623
Gene: KPTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100680
ClinVar RCV Id:
RCV000087080
RCV000515002
RCV003415870
RCV003343637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008990.2:p.Met241_Gln246dup