×
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:
PA915967541
Gene: ACTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
650485
ClinVar RCV Id:
RCV000805645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Ala206Val
CA345147543
NM_001100.4:c.617C>T