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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:
PA916011916
Gene: BMPR1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
660414
ClinVar RCV Id:
RCV000817603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004320.2:p.Gln3Glu
CA377774750
NM_004329.3:c.7C>G