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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:
PA2830186503
Gene: BMP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197190
ClinVar RCV Id:
RCV000178157
RCV000366338
RCV000405370
RCV000989226
RCV000835434
RCV001515452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_570912.2:p.Val152Ala