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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:
PA131412
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42550
ClinVar RCV Id:
RCV000035416
RCV000505710
RCV000999623
RCV001189212
RCV002286698
RCV002399369
RCV002271383
RCV002496528
ClinVar Variation Id:
164109
ClinVar RCV Id:
RCV000249319
RCV000497291
RCV000628923
RCV001170958
RCV003314567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Gly531Arg
CA010674
NM_000256.3:c.1591G>A
CA010681
NM_000256.3:c.1591G>C