×
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:
PA2573269516
Gene: PNKD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1477566
ClinVar RCV Id:
RCV001998387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056303.3:p.Ala33Ser
CA2103249
NM_015488.5:c.97G>T