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: PA168084

Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 142329

ClinVar RCV Id: RCV000131396 RCV001857461

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004320.2:p.Cys124Tyr	CA168082 NM_004329.3:c.371G>A