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: PA111651

Gene: BMPR1B HGNC NCBI

Linked Data

ClinVar Variation Id: 6558

ClinVar RCV Id: RCV000006936 RCV003398455

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001194.1:p.Arg486Gln	CA118355 NM_001203.3:c.1457G>A