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: PA645438383

Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425815

ClinVar RCV Id: RCV000488693

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001195.2:p.Lys230Asn	CA350340258 NM_001204.7:c.690A>C CA350340260 NM_001204.7:c.690A>T