×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826287300
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1709449
ClinVar RCV Id:
RCV002289264
RCV003097774
RCV004047606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Ala502Gly
CA1310701
NM_001206846.2:c.1505C>G