Allele Registry

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.

Canonical Allele Identifier: PA2580543962

Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1970130

ClinVar RCV Id: RCV002760327

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_849188.4:p.Pro139Leu