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: PA916012228

Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 825415

ClinVar RCV Id: RCV001023495 RCV001322369

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004320.2:p.Ile169Thr	CA377450619 NM_004329.3:c.506T>C