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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:
PA2573066580
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433445
ClinVar RCV Id:
RCV000499146
RCV001865584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001162.5:p.Gly663Ser
CA7926064
NM_001171.6:c.1987G>A