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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:
PA2580151177
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1954662
ClinVar RCV Id:
RCV002690109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001162.5:p.Ile1297Asn
CA394876269
NM_001171.6:c.3890T>A