×
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:
PA645408644
Gene: SLC19A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421399
ClinVar RCV Id:
RCV000482702
RCV001856855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079519.1:p.Gln418Arg
CA16617491
NM_025243.4:c.1253A>G