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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916012230
Gene: BMPR1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
825409
ClinVar RCV Id:
RCV001023485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004320.2:p.Ile169Val
CA377450608
NM_004329.3:c.505A>G