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: PA100373

Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 99575

ClinVar RCV Id: RCV000085964 RCV000194283 RCV000778346 RCV003467008

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000363.1:p.Arg217Gln	CA227580 NM_000372.5:c.650G>A