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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:
PA176855
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
164128
ClinVar RCV Id:
RCV000151143
RCV001215230
RCV001836739
RCV002433651
RCV002478426
RCV003486669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Val375Met
CA009805
NM_000256.3:c.1123G>A