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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:
PA180937
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177884
ClinVar RCV Id:
RCV000154535
RCV000226551
RCV000244782
RCV000769317
RCV000766359
RCV004551334
RCV002498741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Arg891Gln
CA012826
NM_000256.3:c.2672G>A