×
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:
PA2828100006
Gene: CHD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
380874
ClinVar RCV Id:
RCV000419342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350535.1:p.Met953Lys
CA16606376
NM_001363606.2:c.2858T>A