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: PA2580170040

Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1794197

ClinVar RCV Id: RCV002452986

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001195.2:p.Asp880Glu	CA350349182 NM_001204.7:c.2640T>A CA350349184 NM_001204.7:c.2640T>G