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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:
PA110669
Gene: MASP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5210
ClinVar RCV Id:
RCV000005520
RCV000239142
RCV003237411
RCV003974799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006601.2:p.Asp120Gly
CA117337
NM_006610.4:c.359A>G