Allele Registry

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.

Canonical Allele Identifier: PA296990

Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 180442

ClinVar RCV Id: RCV000157372 RCV002326895

ClinVar Variation Id: 181444

ClinVar RCV Id: RCV000158949 RCV003447508

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000249.1:p.Met149Ile	CA013812 NM_000258.3:c.447G>A CA013830 NM_000258.3:c.447G>T CA352495936 NM_000258.3:c.447G>C