×
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:
PA645476218
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373013
ClinVar RCV Id:
RCV000413597
RCV000502405
RCV003766152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001368.2:p.Ala1542Val