ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645418044
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
292981
ClinVar RCV Id:
RCV000294742
RCV000349617
RCV000389064
RCV000917707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Leu1565Gln
CA1182599
NM_003126.2:c.4694T>A