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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:
PA2827627091
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433253
ClinVar RCV Id:
RCV000499137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338729.1:p.Gly549Cys
CA7926063
NM_001351800.1:c.1645G>T