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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:
PA645430264
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426014
ClinVar RCV Id:
RCV000488786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Gln201Arg
CA384899827
NM_000020.3:c.602A>G